Canonical Allele Identifier: CA339013248

Gene: GALE

Linked Data

• ClinVar Variation Id: 1066286
• ClinVar RCV Id: RCV001377245
• dbSNP Id: rs1388106856
• gnomAD v2: 1-24124606-C-A
• MyVariant Identifiers: chr1:g.24124606C>A (hg19) ; chr1:g.23798116C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798116C>A , CM000663.2:g.23798116C>A	GRCh38
NC_000001.10:g.24124606C>A , CM000663.1:g.24124606C>A	GRCh37
NC_000001.9:g.23997193C>A	NCBI36
NG_007068.1:g.7689G>T

Transcript Alleles

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