Canonical Allele Identifier: CA259410

Gene: GALT

Linked Data

• ClinVar Variation Id: 25189
• ClinVar RCV Id: RCV000022125 ; RCV001826494
• dbSNP Id: rs367543258
• gnomAD v4: 9-34647956-G-T
• MyVariant Identifiers: chr9:g.34647953G>T (hg19) ; chr9:g.34647956G>T (hg38)
• PubMed: PMID:22461411 ; PMID:24045215

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647956G>T , CM000671.2:g.34647956G>T	GRCh38
NC_000009.11:g.34647953G>T , CM000671.1:g.34647953G>T	GRCh37
NC_000009.10:g.34637953G>T	NCBI36
NG_009029.1:g.6319G>T
NG_028966.1:g.772G>T
NG_009029.2:g.6368G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*90G>T	ENSP00000509954.1:n.*90G>T
ENST00000378842.8:c.502G>T MANE Select	ENSP00000368119.4:p.Val168Leu
ENST00000378842.7:c.502G>T	ENSP00000368119.3:p.Val168Leu
ENST00000450095.6:c.175G>T	ENSP00000401956.2:p.Val59Leu
ENST00000465543.6:n.841G>T
ENST00000472111.5:n.758G>T
ENST00000473506.6:c.*90G>T	ENSP00000432839.2:n.*90G>T
ENST00000473529.5:n.638G>T
ENST00000485531.1:n.943G>T
ENST00000487381.5:n.887G>T
ENST00000489643.6:n.283-159G>T
ENST00000554085.5:c.*246G>T	ENSP00000450419.1:n.*246G>T
ENST00000554139.5:n.681G>T
ENST00000554550.5:c.*122G>T	ENSP00000451435.1:n.*122G>T
ENST00000554638.5:n.974G>T
ENST00000554897.5:c.*122G>T	ENSP00000450942.1:n.*122G>T
ENST00000554944.5:n.698G>T
ENST00000555020.5:n.658G>T
ENST00000555086.5:n.506G>T
ENST00000555214.5:n.262-92G>T
ENST00000556244.1:c.489G>T
ENST00000556278.1:c.253-159G>T	ENSP00000451792.1:n.253-159G>T
ENST00000556494.5:n.623G>T
ENST00000557706.5:n.1064G>T
NM_000155.3:c.502G>T	NP_000146.2:p.Val168Leu
NM_001258332.1:c.175G>T	NP_001245261.1:p.Val59Leu
NM_000155.4:c.502G>T MANE Select	NP_000146.2:p.Val168Leu
NM_001258332.2:c.175G>T	NP_001245261.1:p.Val59Leu