Canonical Allele Identifier: CA685524

Gene: GALE

Linked Data

• ClinVar Variation Id: 281922
• ClinVar RCV Id: RCV000324846 ; RCV001782773
• dbSNP Id: rs779828095
• ExAC: 1:24123077 C / A
• gnomAD v2: 1-24123077-C-A
• gnomAD v3: 1-23796587-C-A
• gnomAD v4: 1-23796587-C-A
• MyVariant Identifiers: chr1:g.24123077C>A (hg19) ; chr1:g.23796587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796587C>A , CM000663.2:g.23796587C>A	GRCh38
NC_000001.10:g.24123077C>A , CM000663.1:g.24123077C>A	GRCh37
NC_000001.9:g.23995664C>A	NCBI36
NG_007068.1:g.9218G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.796-1G>T MANE Select	ENSP00000483375.1:n.796-1G>T
ENST00000374497.7:c.796-1G>T	ENSP00000363621.3:n.796-1G>T
ENST00000418277.5:c.604-1G>T	ENSP00000414719.1:n.604-1G>T
ENST00000429356.5:c.603+110G>T	ENSP00000398585.1:n.603+110G>T
ENST00000456977.5:c.153+110G>T	ENSP00000397045.1:n.153+110G>T
ENST00000459934.5:n.1023G>T
ENST00000469556.1:n.299G>T
ENST00000481736.5:n.1200-1G>T
ENST00000617979.4:c.796-1G>T	ENSP00000483375.1:n.796-1G>T
NM_000403.3:c.796-1G>T	NP_000394.2:n.796-1G>T
NM_001008216.1:c.796-1G>T	NP_001008217.1:n.796-1G>T
NM_001127621.1:c.796-1G>T	NP_001121093.1:n.796-1G>T
NM_001008216.2:c.796-1G>T MANE Select	NP_001008217.1:n.796-1G>T
NM_000403.4:c.796-1G>T	NP_000394.2:n.796-1G>T
NM_001127621.2:c.796-1G>T	NP_001121093.1:n.796-1G>T