Canonical Allele Identifier: CA412066948

Gene: MSL3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.11772231G>C , CM000685.2:g.11772231G>C	GRCh38
NC_000023.10:g.11790350G>C , CM000685.1:g.11790350G>C	GRCh37
NC_000023.9:g.11700271G>C	NCBI36
NG_012564.1:g.19073G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312196.10:c.1357G>C MANE Select	ENSP00000312244.4:p.Ala453Pro
ENST00000380693.8:c.856G>C	ENSP00000370069.4:p.Ala286Pro
ENST00000398527.7:c.1321G>C	ENSP00000381538.2:p.Ala441Pro
ENST00000482871.6:c.859G>C	ENSP00000498064.1:p.Ala287Pro
ENST00000647599.1:c.422G>C
ENST00000647839.1:c.538G>C
ENST00000647869.1:c.1354G>C	ENSP00000497615.1:p.Ala452Pro
ENST00000647985.1:n.3640G>C
ENST00000648013.1:c.859G>C	ENSP00000497518.1:p.Ala287Pro
ENST00000648207.1:n.5774G>C
ENST00000648287.1:c.378G>C
ENST00000649078.1:c.859G>C	ENSP00000498017.1:p.Ala287Pro
ENST00000649130.1:c.1257G>C
ENST00000649271.1:c.859G>C	ENSP00000496967.1:p.Ala287Pro
ENST00000649308.1:n.3037G>C
ENST00000649602.1:c.859G>C	ENSP00000498168.1:p.Ala287Pro
ENST00000649649.1:c.910G>C	ENSP00000497137.1:p.Ala304Pro
ENST00000649684.1:n.2942G>C
ENST00000649685.1:c.910G>C	ENSP00000497496.1:p.Ala304Pro
ENST00000649785.1:c.*170G>C	ENSP00000496803.1:n.*170G>C
ENST00000650050.1:n.2310G>C
ENST00000650215.1:c.910G>C	ENSP00000496944.1:p.Ala304Pro
ENST00000650370.1:c.*1163G>C	ENSP00000498088.1:n.*1163G>C
ENST00000650628.1:c.859G>C	ENSP00000496838.1:p.Ala287Pro
ENST00000312196.8:c.1357G>C	ENSP00000312244.4:p.Ala453Pro
ENST00000361672.6:c.910G>C	ENSP00000354562.2:p.Ala304Pro
ENST00000380693.7:c.859G>C	ENSP00000370069.3:p.Ala287Pro
ENST00000398527.6:c.1321G>C	ENSP00000381538.2:p.Ala441Pro
ENST00000468149.5:c.*890G>C	ENSP00000418673.1:n.*890G>C
NM_001193270.2:c.1321G>C	NP_001180199.1:p.Ala441Pro
NM_001282174.1:c.910G>C	NP_001269103.1:p.Ala304Pro
NM_006800.3:c.859G>C	NP_006791.2:p.Ala287Pro
NM_078629.3:c.1357G>C	NP_523353.2:p.Ala453Pro
XM_005274440.2:c.859G>C	XP_005274497.1:p.Ala287Pro
XM_006724461.1:c.910G>C	XP_006724524.1:p.Ala304Pro
XM_005274440.3:c.859G>C	XP_005274497.1:p.Ala287Pro
XR_001755649.2:n.3021G>C
NM_006800.4:c.859G>C	NP_006791.2:p.Ala287Pro
NM_078629.4:c.1357G>C MANE Select	NP_523353.2:p.Ala453Pro