Canonical Allele Identifier: CA339006638

Gene: GALE

Linked Data

• COSMIC: COSM4143566
• MyVariant Identifiers: chr1:g.24123017C>A (hg19) ; chr1:g.23796527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796527C>A , CM000663.2:g.23796527C>A	GRCh38
NC_000001.10:g.24123017C>A , CM000663.1:g.24123017C>A	GRCh37
NC_000001.9:g.23995604C>A	NCBI36
NG_007068.1:g.9278G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.855G>T MANE Select	ENSP00000483375.1:p.Glu285Asp
ENST00000374497.7:c.855G>T	ENSP00000363621.3:p.Glu285Asp
ENST00000418277.5:c.663G>T	ENSP00000414719.1:p.Glu221Asp
ENST00000429356.5:c.603+170G>T	ENSP00000398585.1:n.603+170G>T
ENST00000456977.5:c.153+170G>T	ENSP00000397045.1:n.153+170G>T
ENST00000459934.5:n.1083G>T
ENST00000469556.1:n.359G>T
ENST00000481736.5:n.1259G>T
ENST00000617979.4:c.855G>T	ENSP00000483375.1:p.Glu285Asp
NM_000403.3:c.855G>T	NP_000394.2:p.Glu285Asp
NM_001008216.1:c.855G>T	NP_001008217.1:p.Glu285Asp
NM_001127621.1:c.855G>T	NP_001121093.1:p.Glu285Asp
NM_001008216.2:c.855G>T MANE Select	NP_001008217.1:p.Glu285Asp
NM_000403.4:c.855G>T	NP_000394.2:p.Glu285Asp
NM_001127621.2:c.855G>T	NP_001121093.1:p.Glu285Asp