Canonical Allele Identifier: CA587243635

Gene: GALT

Linked Data

• dbSNP Id: rs1488294694
• gnomAD v2: 9-34646572-C-T
• gnomAD v3: 9-34646575-C-T
• gnomAD v4: 9-34646575-C-T
• MyVariant Identifiers: chr9:g.34646572C>T (hg19) ; chr9:g.34646572_34646576delinsTCAGT (hg19) ; chr9:g.34646575C>T (hg38) ; chr9:g.34646575_34646579delinsTCAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646575C>T , CM000671.2:g.34646575C>T	GRCh38
NC_000009.11:g.34646572C>T , CM000671.1:g.34646572C>T	GRCh37
NC_000009.10:g.34636572C>T	NCBI36
NG_009029.1:g.4938C>T
NG_009029.2:g.4987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605275.1:n.209-102C>T