Canonical Allele Identifier: CA685440

Gene: GALE

Linked Data

• ClinVar Variation Id: 296827
• ClinVar RCV Id: RCV000367459
• dbSNP Id: rs780393850
• ExAC: 1:24122706 T / C
• gnomAD v2: 1-24122706-T-C
• gnomAD v3: 1-23796216-T-C
• gnomAD v4: 1-23796216-T-C
• MyVariant Identifiers: chr1:g.24122706T>C (hg19) ; chr1:g.23796216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796216T>C , CM000663.2:g.23796216T>C	GRCh38
NC_000001.10:g.24122706T>C , CM000663.1:g.24122706T>C	GRCh37
NC_000001.9:g.23995293T>C	NCBI36
NG_007068.1:g.9589A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.923A>G MANE Select	ENSP00000483375.1:p.Tyr308Cys
ENST00000374497.7:c.923A>G	ENSP00000363621.3:p.Tyr308Cys
ENST00000429356.5:c.653A>G	ENSP00000398585.1:p.Tyr218Cys
ENST00000456977.5:c.203A>G	ENSP00000397045.1:p.Tyr68Cys
ENST00000459934.5:n.1151A>G
ENST00000469556.1:n.670A>G
ENST00000481736.5:n.1327A>G
ENST00000617979.4:c.923A>G	ENSP00000483375.1:p.Tyr308Cys
NM_000403.3:c.923A>G	NP_000394.2:p.Tyr308Cys
NM_001008216.1:c.923A>G	NP_001008217.1:p.Tyr308Cys
NM_001127621.1:c.923A>G	NP_001121093.1:p.Tyr308Cys
NM_001008216.2:c.923A>G MANE Select	NP_001008217.1:p.Tyr308Cys
NM_000403.4:c.923A>G	NP_000394.2:p.Tyr308Cys
NM_001127621.2:c.923A>G	NP_001121093.1:p.Tyr308Cys