Canonical Allele Identifier: CA10610781

Gene: GALE

Linked Data

• ClinVar Variation Id: 296825
• ClinVar RCV Id: RCV000392283
• dbSNP Id: rs576468712
• gnomAD v2: 1-24122247-A-G
• gnomAD v3: 1-23795757-A-G
• gnomAD v4: 1-23795757-A-G
• MyVariant Identifiers: chr1:g.24122247A>G (hg19) ; chr1:g.23795757A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23795757A>G , CM000663.2:g.23795757A>G	GRCh38
NC_000001.10:g.24122247A>G , CM000663.1:g.24122247A>G	GRCh37
NC_000001.9:g.23994834A>G	NCBI36
NG_007068.1:g.10048T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.*192T>C MANE Select	ENSP00000483375.1:n.*192T>C
ENST00000374497.7:c.*192T>C	ENSP00000363621.3:n.*192T>C
ENST00000456977.5:c.519T>C	ENSP00000397045.1:n.519T>C
ENST00000459934.5:n.1467T>C
ENST00000481736.5:n.1643T>C
ENST00000617979.4:c.*192T>C	ENSP00000483375.1:n.*192T>C
NM_000403.3:c.*192T>C	NP_000394.2:n.*192T>C
NM_001008216.1:c.*192T>C	NP_001008217.1:n.*192T>C
NM_001127621.1:c.*192T>C	NP_001121093.1:n.*192T>C
NM_001008216.2:c.*192T>C MANE Select	NP_001008217.1:n.*192T>C
NM_000403.4:c.*192T>C	NP_000394.2:n.*192T>C
NM_001127621.2:c.*192T>C	NP_001121093.1:n.*192T>C