Canonical Allele Identifier: CA19282348

Gene: GALE

Linked Data

• dbSNP Id: rs1038215940
• gnomAD v2: 1-24124938-G-A
• gnomAD v3: 1-23798448-G-A
• gnomAD v4: 1-23798448-G-A
• MyVariant Identifiers: chr1:g.24124938G>A (hg19) ; chr1:g.23798448G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798448G>A , CM000663.2:g.23798448G>A	GRCh38
NC_000001.10:g.24124938G>A , CM000663.1:g.24124938G>A	GRCh37
NC_000001.9:g.23997525G>A	NCBI36
NG_007068.1:g.7357C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.237+167C>T MANE Select	ENSP00000483375.1:n.237+167C>T
ENST00000374497.7:c.237+167C>T	ENSP00000363621.3:n.237+167C>T
ENST00000418277.5:c.45+167C>T	ENSP00000414719.1:n.45+167C>T
ENST00000425913.5:c.237+167C>T	ENSP00000393359.1:n.237+167C>T
ENST00000429356.5:c.45+167C>T	ENSP00000398585.1:n.45+167C>T
ENST00000445705.1:c.237+167C>T	ENSP00000398257.1:n.237+167C>T
ENST00000459934.5:n.355+167C>T
ENST00000466250.5:n.530C>T
ENST00000467493.5:n.480C>T
ENST00000470383.1:n.1952C>T
ENST00000470949.5:n.187+167C>T
ENST00000481736.5:n.424C>T
ENST00000486382.1:n.343+167C>T
ENST00000617979.4:c.237+167C>T	ENSP00000483375.1:n.237+167C>T
NM_000403.3:c.237+167C>T	NP_000394.2:n.237+167C>T
NM_001008216.1:c.237+167C>T	NP_001008217.1:n.237+167C>T
NM_001127621.1:c.237+167C>T	NP_001121093.1:n.237+167C>T
NM_001008216.2:c.237+167C>T MANE Select	NP_001008217.1:n.237+167C>T
NM_000403.4:c.237+167C>T	NP_000394.2:n.237+167C>T
NM_001127621.2:c.237+167C>T	NP_001121093.1:n.237+167C>T