Canonical Allele Identifier: CA146071

Gene: GALE

Linked Data

• ClinVar Variation Id: 92889
• ClinVar RCV Id: RCV000078694 ; RCV000277234 ; RCV001618245
• dbSNP Id: rs760941
• ExAC: 1:24122986 C / T
• gnomAD v2: 1-24122986-C-T
• gnomAD v3: 1-23796496-C-T
• gnomAD v4: 1-23796496-C-T
• MyVariant Identifiers: chr1:g.24122986C>T (hg19) ; chr1:g.24122986_24122987delinsTG (hg19) ; chr1:g.23796496C>T (hg38) ; chr1:g.23796496_23796497delinsTG (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796496C>T , CM000663.2:g.23796496C>T	GRCh38
NC_000001.10:g.24122986C>T , CM000663.1:g.24122986C>T	GRCh37
NC_000001.9:g.23995573C>T	NCBI36
NG_007068.1:g.9309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.873+13G>A MANE Select	ENSP00000483375.1:n.873+13G>A
ENST00000374497.7:c.873+13G>A	ENSP00000363621.3:n.873+13G>A
ENST00000429356.5:c.603+201G>A	ENSP00000398585.1:n.603+201G>A
ENST00000456977.5:c.153+201G>A	ENSP00000397045.1:n.153+201G>A
ENST00000459934.5:n.1101+13G>A
ENST00000469556.1:n.390G>A
ENST00000481736.5:n.1277+13G>A
ENST00000617979.4:c.873+13G>A	ENSP00000483375.1:n.873+13G>A
NM_000403.3:c.873+13G>A	NP_000394.2:n.873+13G>A
NM_001008216.1:c.873+13G>A	NP_001008217.1:n.873+13G>A
NM_001127621.1:c.873+13G>A	NP_001121093.1:n.873+13G>A
NM_001008216.2:c.873+13G>A MANE Select	NP_001008217.1:n.873+13G>A
NM_000403.4:c.873+13G>A	NP_000394.2:n.873+13G>A
NM_001127621.2:c.873+13G>A	NP_001121093.1:n.873+13G>A