Canonical Allele Identifier: CA339014082

Gene: GALE

Linked Data

• MyVariant Identifiers: chr1:g.24124692G>C (hg19) ; chr1:g.23798202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798202G>C , CM000663.2:g.23798202G>C	GRCh38
NC_000001.10:g.24124692G>C , CM000663.1:g.24124692G>C	GRCh37
NC_000001.9:g.23997279G>C	NCBI36
NG_007068.1:g.7603C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.266C>G MANE Select	ENSP00000483375.1:p.Ala89Gly
ENST00000374497.7:c.266C>G	ENSP00000363621.3:p.Ala89Gly
ENST00000418277.5:c.74C>G	ENSP00000414719.1:p.Ala25Gly
ENST00000425913.5:c.266C>G	ENSP00000393359.1:p.Ala89Gly
ENST00000429356.5:c.74C>G	ENSP00000398585.1:p.Ala25Gly
ENST00000445705.1:c.266C>G	ENSP00000398257.1:p.Ala89Gly
ENST00000459934.5:n.384C>G
ENST00000467493.5:n.726C>G
ENST00000470949.5:n.211C>G
ENST00000481736.5:n.670C>G
ENST00000486382.1:n.367C>G
ENST00000617979.4:c.266C>G	ENSP00000483375.1:p.Ala89Gly
NM_000403.3:c.266C>G	NP_000394.2:p.Ala89Gly
NM_001008216.1:c.266C>G	NP_001008217.1:p.Ala89Gly
NM_001127621.1:c.266C>G	NP_001121093.1:p.Ala89Gly
NM_001008216.2:c.266C>G MANE Select	NP_001008217.1:p.Ala89Gly
NM_000403.4:c.266C>G	NP_000394.2:p.Ala89Gly
NM_001127621.2:c.266C>G	NP_001121093.1:p.Ala89Gly