Canonical Allele Identifier: CA2819711239
Community Standard Title: NM_078629.4(MSL3):c.1172-215T>C
Gene: MSL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.11768358T>C , CM000685.2:g.11768358T>C GRCh38
NC_000023.10:g.11786477T>C , CM000685.1:g.11786477T>C GRCh37
NC_000023.9:g.11696398T>C NCBI36
NG_012564.1:g.15200T>C

Transcript Alleles

HGVS Amino-acid Change
NM_078629.4:c.1172-215T>C MANE Select NP_523353.2:n.1172-215T>C
ENST00000312196.10:c.1172-215T>C MANE Select ENSP00000312244.4:n.1172-215T>C
NM_001193270.2:c.1136-215T>C NP_001180199.1:n.1136-215T>C
NM_001282174.1:c.725-215T>C NP_001269103.1:n.725-215T>C
NM_006800.3:c.674-215T>C NP_006791.2:n.674-215T>C
NM_006800.4:c.674-215T>C NP_006791.2:n.674-215T>C
NM_078629.3:c.1172-215T>C NP_523353.2:n.1172-215T>C
ENST00000312196.8:c.1172-215T>C ENSP00000312244.4:n.1172-215T>C
ENST00000361672.6:c.725-215T>C ENSP00000354562.2:n.725-215T>C
ENST00000380691.2:c.478-215T>C ENSP00000370067.2:n.478-215T>C
ENST00000380691.3:c.478-215T>C ENSP00000370067.2:n.478-215T>C
ENST00000380693.7:c.674-215T>C ENSP00000370069.3:n.674-215T>C
ENST00000380693.8:c.671-215T>C ENSP00000370069.4:n.671-215T>C
ENST00000398527.6:c.1136-215T>C ENSP00000381538.2:n.1136-215T>C
ENST00000398527.7:c.1136-215T>C ENSP00000381538.2:n.1136-215T>C
ENST00000467141.1:n.70-215T>C
ENST00000467141.2:c.193-217T>C
ENST00000468149.5:c.*705-215T>C ENSP00000418673.1:n.*705-215T>C
ENST00000473380.1:n.46T>C
ENST00000473380.2:n.5617T>C
ENST00000482871.6:c.674-215T>C ENSP00000498064.1:n.674-215T>C
ENST00000647599.1:c.237-215T>C
ENST00000647839.1:c.402-264T>C
ENST00000647857.1:c.1172-215T>C ENSP00000497753.1:n.1172-215T>C
ENST00000647869.1:c.1169-215T>C ENSP00000497615.1:n.1169-215T>C
ENST00000647985.1:n.3455-215T>C
ENST00000648013.1:c.674-215T>C ENSP00000497518.1:n.674-215T>C
ENST00000648207.1:n.5374T>C
ENST00000648287.1:c.193-215T>C
ENST00000648692.1:c.421-215T>C
ENST00000648889.1:n.4923T>C
ENST00000649078.1:c.674-215T>C ENSP00000498017.1:n.674-215T>C
ENST00000649130.1:c.1072-215T>C
ENST00000649271.1:c.674-215T>C ENSP00000496967.1:n.674-215T>C
ENST00000649308.1:n.2637T>C
ENST00000649602.1:c.674-215T>C ENSP00000498168.1:n.674-215T>C
ENST00000649649.1:c.725-215T>C ENSP00000497137.1:n.725-215T>C
ENST00000649684.1:n.2757-215T>C
ENST00000649685.1:c.725-215T>C ENSP00000497496.1:n.725-215T>C
ENST00000649785.1:c.674-217T>C ENSP00000496803.1:n.674-217T>C
ENST00000649988.1:n.3847-215T>C
ENST00000650050.1:n.2234+2629T>C
ENST00000650215.1:c.725-215T>C ENSP00000496944.1:n.725-215T>C
ENST00000650370.1:c.*978-215T>C ENSP00000498088.1:n.*978-215T>C
ENST00000650628.1:c.674-215T>C ENSP00000496838.1:n.674-215T>C
XM_005274440.2:c.674-215T>C XP_005274497.1:n.674-215T>C
XM_005274440.3:c.674-215T>C XP_005274497.1:n.674-215T>C
XM_006724461.1:c.725-215T>C XP_006724524.1:n.725-215T>C
XM_011545442.3:c.*1195T>C XP_011543744.1:n.*1195T>C
XR_001755649.2:n.2621T>C