Canonical Allele Identifier: CA521645355

Gene: GALE

Linked Data

• dbSNP Id: rs1444459144
• gnomAD v2: 1-24124976-T-A
• gnomAD v4: 1-23798486-T-A
• MyVariant Identifiers: chr1:g.24124976T>A (hg19) ; chr1:g.23798486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798486T>A , CM000663.2:g.23798486T>A	GRCh38
NC_000001.10:g.24124976T>A , CM000663.1:g.24124976T>A	GRCh37
NC_000001.9:g.23997563T>A	NCBI36
NG_007068.1:g.7319A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.237+129A>T MANE Select	ENSP00000483375.1:n.237+129A>T
ENST00000374497.7:c.237+129A>T	ENSP00000363621.3:n.237+129A>T
ENST00000418277.5:c.45+129A>T	ENSP00000414719.1:n.45+129A>T
ENST00000425913.5:c.237+129A>T	ENSP00000393359.1:n.237+129A>T
ENST00000429356.5:c.45+129A>T	ENSP00000398585.1:n.45+129A>T
ENST00000445705.1:c.237+129A>T	ENSP00000398257.1:n.237+129A>T
ENST00000459934.5:n.355+129A>T
ENST00000466250.5:n.492A>T
ENST00000467493.5:n.442A>T
ENST00000470383.1:n.1914A>T
ENST00000470949.5:n.187+129A>T
ENST00000481736.5:n.386A>T
ENST00000486382.1:n.343+129A>T
ENST00000617979.4:c.237+129A>T	ENSP00000483375.1:n.237+129A>T
NM_000403.3:c.237+129A>T	NP_000394.2:n.237+129A>T
NM_001008216.1:c.237+129A>T	NP_001008217.1:n.237+129A>T
NM_001127621.1:c.237+129A>T	NP_001121093.1:n.237+129A>T
NM_001008216.2:c.237+129A>T MANE Select	NP_001008217.1:n.237+129A>T
NM_000403.4:c.237+129A>T	NP_000394.2:n.237+129A>T
NM_001127621.2:c.237+129A>T	NP_001121093.1:n.237+129A>T