Canonical Allele Identifier: CA412063641

Gene: MSL3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.11762211C>T , CM000685.2:g.11762211C>T	GRCh38
NC_000023.10:g.11780330C>T , CM000685.1:g.11780330C>T	GRCh37
NC_000023.9:g.11690251C>T	NCBI36
NG_012564.1:g.9053C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_078629.4:c.547C>T MANE Select	NP_523353.2:p.Gln183Ter
ENST00000312196.10:c.547C>T MANE Select	ENSP00000312244.4:p.Gln183Ter
NM_001193270.2:c.511C>T	NP_001180199.1:p.Gln171Ter
NM_001282174.1:c.100C>T	NP_001269103.1:p.Gln34Ter
NM_006800.3:c.49C>T	NP_006791.2:p.Gln17Ter
NM_006800.4:c.49C>T	NP_006791.2:p.Gln17Ter
NM_078628.1:c.547C>T	NP_523352.1:p.Gln183Ter
NM_078628.2:c.547C>T	NP_523352.1:p.Gln183Ter
NM_078629.3:c.547C>T	NP_523353.2:p.Gln183Ter
ENST00000312196.8:c.547C>T	ENSP00000312244.4:p.Gln183Ter
ENST00000337339.6:c.547C>T	ENSP00000338078.2:p.Gln183Ter
ENST00000337339.7:c.547C>T	ENSP00000338078.2:p.Gln183Ter
ENST00000361672.6:c.100C>T	ENSP00000354562.2:p.Gln34Ter
ENST00000380692.6:c.49C>T	ENSP00000370068.2:p.Gln17Ter
ENST00000380692.7:c.49C>T	ENSP00000370068.3:p.Gln17Ter
ENST00000380693.7:c.49C>T	ENSP00000370069.3:p.Gln17Ter
ENST00000380693.8:c.49C>T	ENSP00000370069.4:p.Gln17Ter
ENST00000398527.6:c.511C>T	ENSP00000381538.2:p.Gln171Ter
ENST00000398527.7:c.511C>T	ENSP00000381538.2:p.Gln171Ter
ENST00000421368.2:c.511C>T	ENSP00000401809.2:p.Gln171Ter
ENST00000421368.3:c.49C>T	ENSP00000401809.3:p.Gln17Ter
ENST00000468149.5:c.*80C>T	ENSP00000418673.1:n.*80C>T
ENST00000473380.2:n.836C>T
ENST00000476743.5:c.49C>T	ENSP00000419976.1:p.Gln17Ter
ENST00000482871.5:n.722C>T
ENST00000482871.6:c.49C>T	ENSP00000498064.1:p.Gln17Ter
ENST00000483645.5:n.420C>T
ENST00000483645.6:c.100C>T	ENSP00000498026.1:p.Gln34Ter
ENST00000494268.1:n.450C>T
ENST00000647701.1:n.561C>T
ENST00000647857.1:c.547C>T	ENSP00000497753.1:p.Gln183Ter
ENST00000647869.1:c.547C>T	ENSP00000497615.1:p.Gln183Ter
ENST00000647985.1:n.1302C>T
ENST00000648013.1:c.49C>T	ENSP00000497518.1:p.Gln17Ter
ENST00000648207.1:n.593C>T
ENST00000648614.1:c.49C>T	ENSP00000497799.1:p.Gln17Ter
ENST00000648889.1:n.1670C>T
ENST00000648918.1:n.1662C>T
ENST00000649078.1:c.49C>T	ENSP00000498017.1:p.Gln17Ter
ENST00000649130.1:c.447C>T
ENST00000649271.1:c.49C>T	ENSP00000496967.1:p.Gln17Ter
ENST00000649308.1:n.615C>T
ENST00000649602.1:c.49C>T	ENSP00000498168.1:p.Gln17Ter
ENST00000649649.1:c.100C>T	ENSP00000497137.1:p.Gln34Ter
ENST00000649684.1:n.604C>T
ENST00000649685.1:c.100C>T	ENSP00000497496.1:p.Gln34Ter
ENST00000649785.1:c.49C>T	ENSP00000496803.1:p.Gln17Ter
ENST00000649797.1:c.49C>T	ENSP00000498062.1:p.Gln17Ter
ENST00000649851.1:c.49C>T	ENSP00000497132.1:p.Gln17Ter
ENST00000649988.1:n.1694C>T
ENST00000650050.1:n.82C>T
ENST00000650215.1:c.100C>T	ENSP00000496944.1:p.Gln34Ter
ENST00000650370.1:c.*353C>T	ENSP00000498088.1:n.*353C>T
ENST00000650628.1:c.49C>T	ENSP00000496838.1:p.Gln17Ter
XM_005274440.2:c.49C>T	XP_005274497.1:p.Gln17Ter
XM_005274440.3:c.49C>T	XP_005274497.1:p.Gln17Ter
XM_006724461.1:c.100C>T	XP_006724524.1:p.Gln34Ter
XM_011545442.1:c.547C>T	XP_011543744.1:p.Gln183Ter
XM_011545442.3:c.547C>T	XP_011543744.1:p.Gln183Ter
XM_011545443.1:c.547C>T	XP_011543745.1:p.Gln183Ter
XM_011545444.1:c.547C>T	XP_011543746.1:p.Gln183Ter
XR_001755649.2:n.599C>T