Canonical Allele Identifier: CA1139988479

Gene: GALE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796202G= , CM000663.2:g.23796202G=	GRCh38
NC_000001.10:g.24122692G= , CM000663.1:g.24122692G=	GRCh37
NC_000001.9:g.23995279G=	NCBI36
NG_007068.1:g.9603C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.937C= MANE Select	ENSP00000483375.1:p.Leu313=
ENST00000374497.7:c.937C=	ENSP00000363621.3:p.Leu313=
ENST00000429356.5:c.667C=	ENSP00000398585.1:p.Leu223=
ENST00000456977.5:c.217C=	ENSP00000397045.1:p.Leu73=
ENST00000459934.5:n.1165C=
ENST00000469556.1:n.684C=
ENST00000481736.5:n.1341C=
ENST00000617979.4:c.937C=	ENSP00000483375.1:p.Leu313=
NM_000403.3:c.937C=	NP_000394.2:p.Leu313=
NM_001008216.1:c.937C=	NP_001008217.1:p.Leu313=
NM_001127621.1:c.937C=	NP_001121093.1:p.Leu313=
NM_001008216.2:c.937C= MANE Select	NP_001008217.1:p.Leu313=
NM_000403.4:c.937C=	NP_000394.2:p.Leu313=
NM_001127621.2:c.937C=	NP_001121093.1:p.Leu313=