Canonical Allele Identifier: CA733287354

Gene: GALE

Linked Data

• ClinVar Variation Id: 2974658
• ClinVar RCV Id: RCV003838280
• dbSNP Id: rs1163863483
• gnomAD v3: 1-23798100-T-C
• gnomAD v4: 1-23798100-T-C
• MyVariant Identifiers: chr1:g.24124590T>C (hg19) ; chr1:g.23798100T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798100T>C , CM000663.2:g.23798100T>C	GRCh38
NC_000001.10:g.24124590T>C , CM000663.1:g.24124590T>C	GRCh37
NC_000001.9:g.23997177T>C	NCBI36
NG_007068.1:g.7705A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000617979.5:c.351+17A>G MANE Select	ENSP00000483375.1:n.351+17A>G
ENST00000374497.7:c.351+17A>G	ENSP00000363621.3:n.351+17A>G
ENST00000418277.5:c.159+17A>G	ENSP00000414719.1:n.159+17A>G
ENST00000425913.5:c.351+17A>G	ENSP00000393359.1:n.351+17A>G
ENST00000429356.5:c.159+17A>G	ENSP00000398585.1:n.159+17A>G
ENST00000445705.1:c.351+17A>G	ENSP00000398257.1:n.351+17A>G
ENST00000459934.5:n.469+17A>G
ENST00000467493.5:n.811+17A>G
ENST00000470949.5:n.296+17A>G
ENST00000481736.5:n.755+17A>G
ENST00000617979.4:c.351+17A>G	ENSP00000483375.1:n.351+17A>G
NM_000403.3:c.351+17A>G	NP_000394.2:n.351+17A>G
NM_001008216.1:c.351+17A>G	NP_001008217.1:n.351+17A>G
NM_001127621.1:c.351+17A>G	NP_001121093.1:n.351+17A>G
NM_001008216.2:c.351+17A>G MANE Select	NP_001008217.1:n.351+17A>G
NM_000403.4:c.351+17A>G	NP_000394.2:n.351+17A>G
NM_001127621.2:c.351+17A>G	NP_001121093.1:n.351+17A>G