Canonical Allele Identifier: CA685717

Gene: GALE

Linked Data

• dbSNP Id: rs370125342
• ExAC: 1:24124751 T / C
• gnomAD v2: 1-24124751-T-C
• gnomAD v3: 1-23798261-T-C
• gnomAD v4: 1-23798261-T-C
• MyVariant Identifiers: chr1:g.24124751T>C (hg19) ; chr1:g.23798261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798261T>C , CM000663.2:g.23798261T>C	GRCh38
NC_000001.10:g.24124751T>C , CM000663.1:g.24124751T>C	GRCh37
NC_000001.9:g.23997338T>C	NCBI36
NG_007068.1:g.7544A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.238-31A>G MANE Select	ENSP00000483375.1:n.238-31A>G
ENST00000374497.7:c.238-31A>G	ENSP00000363621.3:n.238-31A>G
ENST00000418277.5:c.46-31A>G	ENSP00000414719.1:n.46-31A>G
ENST00000425913.5:c.238-31A>G	ENSP00000393359.1:n.238-31A>G
ENST00000429356.5:c.46-31A>G	ENSP00000398585.1:n.46-31A>G
ENST00000445705.1:c.238-31A>G	ENSP00000398257.1:n.238-31A>G
ENST00000459934.5:n.356-31A>G
ENST00000467493.5:n.667A>G
ENST00000470949.5:n.188-36A>G
ENST00000481736.5:n.611A>G
ENST00000486382.1:n.344-36A>G
ENST00000617979.4:c.238-31A>G	ENSP00000483375.1:n.238-31A>G
NM_000403.3:c.238-31A>G	NP_000394.2:n.238-31A>G
NM_001008216.1:c.238-31A>G	NP_001008217.1:n.238-31A>G
NM_001127621.1:c.238-31A>G	NP_001121093.1:n.238-31A>G
NM_001008216.2:c.238-31A>G MANE Select	NP_001008217.1:n.238-31A>G
NM_000403.4:c.238-31A>G	NP_000394.2:n.238-31A>G
NM_001127621.2:c.238-31A>G	NP_001121093.1:n.238-31A>G