Canonical Allele Identifier: CA19282089

Gene: GALE

Linked Data

• ClinVar Variation Id: 2960143
• ClinVar RCV Id: RCV003814903
• dbSNP Id: rs968880726
• gnomAD v3: 1-23798180-C-T
• gnomAD v4: 1-23798180-C-T
• COSMIC: COSM2049841
• MyVariant Identifiers: chr1:g.24124670C>T (hg19) ; chr1:g.23798180C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798180C>T , CM000663.2:g.23798180C>T	GRCh38
NC_000001.10:g.24124670C>T , CM000663.1:g.24124670C>T	GRCh37
NC_000001.9:g.23997257C>T	NCBI36
NG_007068.1:g.7625G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.288G>A MANE Select	ENSP00000483375.1:p.Glu96=
ENST00000374497.7:c.288G>A	ENSP00000363621.3:p.Glu96=
ENST00000418277.5:c.96G>A	ENSP00000414719.1:p.Glu32=
ENST00000425913.5:c.288G>A	ENSP00000393359.1:p.Glu96=
ENST00000429356.5:c.96G>A	ENSP00000398585.1:p.Glu32=
ENST00000445705.1:c.288G>A	ENSP00000398257.1:p.Glu96=
ENST00000459934.5:n.406G>A
ENST00000467493.5:n.748G>A
ENST00000470949.5:n.233G>A
ENST00000481736.5:n.692G>A
ENST00000486382.1:n.389G>A
ENST00000617979.4:c.288G>A	ENSP00000483375.1:p.Glu96=
NM_000403.3:c.288G>A	NP_000394.2:p.Glu96=
NM_001008216.1:c.288G>A	NP_001008217.1:p.Glu96=
NM_001127621.1:c.288G>A	NP_001121093.1:p.Glu96=
NM_001008216.2:c.288G>A MANE Select	NP_001008217.1:p.Glu96=
NM_000403.4:c.288G>A	NP_000394.2:p.Glu96=
NM_001127621.2:c.288G>A	NP_001121093.1:p.Glu96=