Canonical Allele Identifier: CA19282316

Gene: GALE

Linked Data

• dbSNP Id: rs941843965
• gnomAD v2: 1-24124894-A-C
• gnomAD v3: 1-23798404-A-C
• gnomAD v4: 1-23798404-A-C
• MyVariant Identifiers: chr1:g.24124894A>C (hg19) ; chr1:g.23798404A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798404A>C , CM000663.2:g.23798404A>C	GRCh38
NC_000001.10:g.24124894A>C , CM000663.1:g.24124894A>C	GRCh37
NC_000001.9:g.23997481A>C	NCBI36
NG_007068.1:g.7401T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.238-174T>G MANE Select	ENSP00000483375.1:n.238-174T>G
ENST00000374497.7:c.238-174T>G	ENSP00000363621.3:n.238-174T>G
ENST00000418277.5:c.46-174T>G	ENSP00000414719.1:n.46-174T>G
ENST00000425913.5:c.238-174T>G	ENSP00000393359.1:n.238-174T>G
ENST00000429356.5:c.46-174T>G	ENSP00000398585.1:n.46-174T>G
ENST00000445705.1:c.238-174T>G	ENSP00000398257.1:n.238-174T>G
ENST00000459934.5:n.356-174T>G
ENST00000466250.5:n.574T>G
ENST00000467493.5:n.524T>G
ENST00000470383.1:n.1996T>G
ENST00000470949.5:n.188-179T>G
ENST00000481736.5:n.468T>G
ENST00000486382.1:n.344-179T>G
ENST00000617979.4:c.238-174T>G	ENSP00000483375.1:n.238-174T>G
NM_000403.3:c.238-174T>G	NP_000394.2:n.238-174T>G
NM_001008216.1:c.238-174T>G	NP_001008217.1:n.238-174T>G
NM_001127621.1:c.238-174T>G	NP_001121093.1:n.238-174T>G
NM_001008216.2:c.238-174T>G MANE Select	NP_001008217.1:n.238-174T>G
NM_000403.4:c.238-174T>G	NP_000394.2:n.238-174T>G
NM_001127621.2:c.238-174T>G	NP_001121093.1:n.238-174T>G