Canonical Allele Identifier: CA685694

Gene: GALE

Linked Data

• dbSNP Id: rs746587021
• ExAC: 1:24124596 A / G
• gnomAD v2: 1-24124596-A-G
• gnomAD v3: 1-23798106-A-G
• gnomAD v4: 1-23798106-A-G
• MyVariant Identifiers: chr1:g.24124596A>G (hg19) ; chr1:g.23798106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798106A>G , CM000663.2:g.23798106A>G	GRCh38
NC_000001.10:g.24124596A>G , CM000663.1:g.24124596A>G	GRCh37
NC_000001.9:g.23997183A>G	NCBI36
NG_007068.1:g.7699T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000617979.5:c.351+11T>C MANE Select	ENSP00000483375.1:n.351+11T>C
ENST00000374497.7:c.351+11T>C	ENSP00000363621.3:n.351+11T>C
ENST00000418277.5:c.159+11T>C	ENSP00000414719.1:n.159+11T>C
ENST00000425913.5:c.351+11T>C	ENSP00000393359.1:n.351+11T>C
ENST00000429356.5:c.159+11T>C	ENSP00000398585.1:n.159+11T>C
ENST00000445705.1:c.351+11T>C	ENSP00000398257.1:n.351+11T>C
ENST00000459934.5:n.469+11T>C
ENST00000467493.5:n.811+11T>C
ENST00000470949.5:n.296+11T>C
ENST00000481736.5:n.755+11T>C
ENST00000617979.4:c.351+11T>C	ENSP00000483375.1:n.351+11T>C
NM_000403.3:c.351+11T>C	NP_000394.2:n.351+11T>C
NM_001008216.1:c.351+11T>C	NP_001008217.1:n.351+11T>C
NM_001127621.1:c.351+11T>C	NP_001121093.1:n.351+11T>C
NM_001008216.2:c.351+11T>C MANE Select	NP_001008217.1:n.351+11T>C
NM_000403.4:c.351+11T>C	NP_000394.2:n.351+11T>C
NM_001127621.2:c.351+11T>C	NP_001121093.1:n.351+11T>C