Canonical Allele Identifier: CA116434

Gene: GALE

Linked Data

• ClinVar Variation Id: 3682
• ClinVar RCV Id: RCV000003867 ; RCV000020292 ; RCV000727367 ; RCV002512728
• dbSNP Id: rs121908047
• ExAC: 1:24124678 C / T
• gnomAD v2: 1-24124678-C-T
• gnomAD v3: 1-23798188-C-T
• gnomAD v4: 1-23798188-C-T
• MyVariant Identifiers: chr1:g.24124678C>T (hg19) ; chr1:g.23798188C>T (hg38)
• PubMed: PMID:6408303 ; PMID:7305435 ; PMID:9973283 ; PMID:10086948 ; PMID:11117433 ; PMID:11279193 ; PMID:18188677 ; PMID:21290786 ; PMID:23644136 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798188C>T , CM000663.2:g.23798188C>T	GRCh38
NC_000001.10:g.24124678C>T , CM000663.1:g.24124678C>T	GRCh37
NC_000001.9:g.23997265C>T	NCBI36
NG_007068.1:g.7617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.280G>A MANE Select	ENSP00000483375.1:p.Val94Met
ENST00000374497.7:c.280G>A	ENSP00000363621.3:p.Val94Met
ENST00000418277.5:c.88G>A	ENSP00000414719.1:p.Val30Met
ENST00000425913.5:c.280G>A	ENSP00000393359.1:p.Val94Met
ENST00000429356.5:c.88G>A	ENSP00000398585.1:p.Val30Met
ENST00000445705.1:c.280G>A	ENSP00000398257.1:p.Val94Met
ENST00000459934.5:n.398G>A
ENST00000467493.5:n.740G>A
ENST00000470949.5:n.225G>A
ENST00000481736.5:n.684G>A
ENST00000486382.1:n.381G>A
ENST00000617979.4:c.280G>A	ENSP00000483375.1:p.Val94Met
NM_000403.3:c.280G>A	NP_000394.2:p.Val94Met
NM_001008216.1:c.280G>A	NP_001008217.1:p.Val94Met
NM_001127621.1:c.280G>A	NP_001121093.1:p.Val94Met
NM_001008216.2:c.280G>A MANE Select	NP_001008217.1:p.Val94Met
NM_000403.4:c.280G>A	NP_000394.2:p.Val94Met
NM_001127621.2:c.280G>A	NP_001121093.1:p.Val94Met