Canonical Allele Identifier: CA999570686

Gene: GALE

Linked Data

• dbSNP Id: rs1639032730
• gnomAD v3: 1-23798473-T-G
• gnomAD v4: 1-23798473-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798473T>G , CM000663.2:g.23798473T>G	GRCh38
NC_000001.10:g.24124963T>G , CM000663.1:g.24124963T>G	GRCh37
NC_000001.9:g.23997550T>G	NCBI36
NG_007068.1:g.7332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.237+142A>C MANE Select	ENSP00000483375.1:n.237+142A>C
ENST00000374497.7:c.237+142A>C	ENSP00000363621.3:n.237+142A>C
ENST00000418277.5:c.45+142A>C	ENSP00000414719.1:n.45+142A>C
ENST00000425913.5:c.237+142A>C	ENSP00000393359.1:n.237+142A>C
ENST00000429356.5:c.45+142A>C	ENSP00000398585.1:n.45+142A>C
ENST00000445705.1:c.237+142A>C	ENSP00000398257.1:n.237+142A>C
ENST00000459934.5:n.355+142A>C
ENST00000466250.5:n.505A>C
ENST00000467493.5:n.455A>C
ENST00000470383.1:n.1927A>C
ENST00000470949.5:n.187+142A>C
ENST00000481736.5:n.399A>C
ENST00000486382.1:n.343+142A>C
ENST00000617979.4:c.237+142A>C	ENSP00000483375.1:n.237+142A>C
NM_000403.3:c.237+142A>C	NP_000394.2:n.237+142A>C
NM_001008216.1:c.237+142A>C	NP_001008217.1:n.237+142A>C
NM_001127621.1:c.237+142A>C	NP_001121093.1:n.237+142A>C
NM_001008216.2:c.237+142A>C MANE Select	NP_001008217.1:n.237+142A>C
NM_000403.4:c.237+142A>C	NP_000394.2:n.237+142A>C
NM_001127621.2:c.237+142A>C	NP_001121093.1:n.237+142A>C