Canonical Allele Identifier: CA416614905

Gene: GALE

Linked Data

• ClinVar Variation Id: 646557
• ClinVar RCV Id: RCV000800868
• dbSNP Id: rs1570630092
• MyVariant Identifiers: chr1:g.24122999C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796509C>T , CM000663.2:g.23796509C>T	GRCh38
NC_000001.10:g.24122999C>T , CM000663.1:g.24122999C>T	GRCh37
NC_000001.9:g.23995586C>T	NCBI36
NG_007068.1:g.9296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.873G>A MANE Select	ENSP00000483375.1:p.Lys291=
ENST00000374497.7:c.873G>A	ENSP00000363621.3:p.Lys291=
ENST00000418277.5:c.681G>A	ENSP00000414719.1:p.Lys227=
ENST00000429356.5:c.603+188G>A	ENSP00000398585.1:n.603+188G>A
ENST00000456977.5:c.153+188G>A	ENSP00000397045.1:n.153+188G>A
ENST00000459934.5:n.1101G>A
ENST00000469556.1:n.377G>A
ENST00000481736.5:n.1277G>A
ENST00000617979.4:c.873G>A	ENSP00000483375.1:p.Lys291=
NM_000403.3:c.873G>A	NP_000394.2:p.Lys291=
NM_001008216.1:c.873G>A	NP_001008217.1:p.Lys291=
NM_001127621.1:c.873G>A	NP_001121093.1:p.Lys291=
NM_001008216.2:c.873G>A MANE Select	NP_001008217.1:p.Lys291=
NM_000403.4:c.873G>A	NP_000394.2:p.Lys291=
NM_001127621.2:c.873G>A	NP_001121093.1:p.Lys291=