Canonical Allele Identifier: CA685512

Gene: GALE

Linked Data

• ClinVar Variation Id: 2965452
• ClinVar RCV Id: RCV003823618
• dbSNP Id: rs17403588
• ExAC: 1:24123017 C / T
• gnomAD v2: 1-24123017-C-T
• gnomAD v4: 1-23796527-C-T
• COSMIC: COSM5788852
• MyVariant Identifiers: chr1:g.24123017C>T (hg19) ; chr1:g.23796527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796527C>T , CM000663.2:g.23796527C>T	GRCh38
NC_000001.10:g.24123017C>T , CM000663.1:g.24123017C>T	GRCh37
NC_000001.9:g.23995604C>T	NCBI36
NG_007068.1:g.9278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.855G>A MANE Select	ENSP00000483375.1:p.Glu285=
ENST00000374497.7:c.855G>A	ENSP00000363621.3:p.Glu285=
ENST00000418277.5:c.663G>A	ENSP00000414719.1:p.Glu221=
ENST00000429356.5:c.603+170G>A	ENSP00000398585.1:n.603+170G>A
ENST00000456977.5:c.153+170G>A	ENSP00000397045.1:n.153+170G>A
ENST00000459934.5:n.1083G>A
ENST00000469556.1:n.359G>A
ENST00000481736.5:n.1259G>A
ENST00000617979.4:c.855G>A	ENSP00000483375.1:p.Glu285=
NM_000403.3:c.855G>A	NP_000394.2:p.Glu285=
NM_001008216.1:c.855G>A	NP_001008217.1:p.Glu285=
NM_001127621.1:c.855G>A	NP_001121093.1:p.Glu285=
NM_001008216.2:c.855G>A MANE Select	NP_001008217.1:p.Glu285=
NM_000403.4:c.855G>A	NP_000394.2:p.Glu285=
NM_001127621.2:c.855G>A	NP_001121093.1:p.Glu285=