Canonical Allele Identifier: CA10348895
Community Standard Title: NM_078629.4(MSL3):c.1094G>A (p.Ser365Asn)
Gene: MSL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.11765652G>A , CM000685.2:g.11765652G>A GRCh38
NC_000023.10:g.11783771G>A , CM000685.1:g.11783771G>A GRCh37
NC_000023.9:g.11693692G>A NCBI36
NG_012564.1:g.12494G>A

Transcript Alleles

HGVS Amino-acid Change
NM_078629.4:c.1094G>A MANE Select NP_523353.2:p.Ser365Asn
ENST00000312196.10:c.1094G>A MANE Select ENSP00000312244.4:p.Ser365Asn
NM_001193270.2:c.1058G>A NP_001180199.1:p.Ser353Asn
NM_001282174.1:c.647G>A NP_001269103.1:p.Ser216Asn
NM_006800.3:c.596G>A NP_006791.2:p.Ser199Asn
NM_006800.4:c.596G>A NP_006791.2:p.Ser199Asn
NM_078628.1:c.1094G>A NP_523352.1:p.Ser365Asn
NM_078628.2:c.1094G>A NP_523352.1:p.Ser365Asn
NM_078629.3:c.1094G>A NP_523353.2:p.Ser365Asn
ENST00000312196.8:c.1094G>A ENSP00000312244.4:p.Ser365Asn
ENST00000337339.6:c.1094G>A ENSP00000338078.2:p.Ser365Asn
ENST00000337339.7:c.1094G>A ENSP00000338078.2:p.Ser365Asn
ENST00000361672.6:c.647G>A ENSP00000354562.2:p.Ser216Asn
ENST00000380691.2:c.400G>A ENSP00000370067.2:n.400G>A
ENST00000380691.3:c.400G>A ENSP00000370067.2:n.400G>A
ENST00000380693.7:c.596G>A ENSP00000370069.3:p.Ser199Asn
ENST00000380693.8:c.593G>A ENSP00000370069.4:p.Ser198Asn
ENST00000398527.6:c.1058G>A ENSP00000381538.2:p.Ser353Asn
ENST00000398527.7:c.1058G>A ENSP00000381538.2:p.Ser353Asn
ENST00000467141.2:c.115G>A
ENST00000468149.5:c.*627G>A ENSP00000418673.1:n.*627G>A
ENST00000473380.2:n.2911G>A
ENST00000482871.6:c.596G>A ENSP00000498064.1:p.Ser199Asn
ENST00000647599.1:c.115G>A
ENST00000647701.1:n.2636G>A
ENST00000647839.1:c.115G>A
ENST00000647857.1:c.1094G>A ENSP00000497753.1:p.Ser365Asn
ENST00000647869.1:c.1091G>A ENSP00000497615.1:p.Ser364Asn
ENST00000647985.1:n.3377G>A
ENST00000648013.1:c.596G>A ENSP00000497518.1:p.Ser199Asn
ENST00000648207.1:n.2668G>A
ENST00000648287.1:c.115G>A
ENST00000648545.1:c.115G>A
ENST00000648614.1:c.*390G>A ENSP00000497799.1:n.*390G>A
ENST00000648656.1:c.115G>A
ENST00000648692.1:c.115G>A
ENST00000648889.1:n.2217G>A
ENST00000648918.1:n.3737G>A
ENST00000649078.1:c.596G>A ENSP00000498017.1:p.Ser199Asn
ENST00000649130.1:c.994G>A
ENST00000649271.1:c.596G>A ENSP00000496967.1:p.Ser199Asn
ENST00000649308.1:n.1162G>A
ENST00000649420.1:c.55G>A
ENST00000649602.1:c.596G>A ENSP00000498168.1:p.Ser199Asn
ENST00000649649.1:c.647G>A ENSP00000497137.1:p.Ser216Asn
ENST00000649684.1:n.2679G>A
ENST00000649685.1:c.647G>A ENSP00000497496.1:p.Ser216Asn
ENST00000649785.1:c.596G>A ENSP00000496803.1:p.Ser199Asn
ENST00000649797.1:c.596G>A ENSP00000498062.1:p.Ser199Asn
ENST00000649851.1:c.596G>A ENSP00000497132.1:p.Ser199Asn
ENST00000649988.1:n.3769G>A
ENST00000650050.1:n.2157G>A
ENST00000650106.1:c.115G>A
ENST00000650215.1:c.647G>A ENSP00000496944.1:p.Ser216Asn
ENST00000650370.1:c.*900G>A ENSP00000498088.1:n.*900G>A
ENST00000650628.1:c.596G>A ENSP00000496838.1:p.Ser199Asn
XM_005274440.2:c.596G>A XP_005274497.1:p.Ser199Asn
XM_005274440.3:c.596G>A XP_005274497.1:p.Ser199Asn
XM_006724461.1:c.647G>A XP_006724524.1:p.Ser216Asn
XM_011545442.1:c.1094G>A XP_011543744.1:p.Ser365Asn
XM_011545442.3:c.1094G>A XP_011543744.1:p.Ser365Asn
XM_011545443.1:c.1094G>A XP_011543745.1:p.Ser365Asn
XM_011545444.1:c.1094G>A XP_011543746.1:p.Ser365Asn
XR_001755649.2:n.1146G>A