Canonical Allele Identifier: CA10603762
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 280968
ClinVar RCV Id: RCV000433820
dbSNP Id: rs886042064

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649070T>C , CM000671.2:g.34649070T>C GRCh38
NC_000009.11:g.34649067T>C , CM000671.1:g.34649067T>C GRCh37
NC_000009.10:g.34639067T>C NCBI36
NG_009029.1:g.7433T>C
NG_028966.1:g.1886T>C
NG_009029.2:g.7482T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*481T>C ENSP00000509954.1:n.*481T>C
ENST00000378842.8:c.893T>C MANE Select ENSP00000368119.4:p.Met298Thr
ENST00000378842.7:c.893T>C ENSP00000368119.3:p.Met298Thr
ENST00000450095.6:c.566T>C ENSP00000401956.2:p.Met189Thr
ENST00000488412.2:n.149T>C
ENST00000489643.6:n.973T>C
ENST00000554550.5:c.*513T>C ENSP00000451435.1:n.*513T>C
ENST00000554638.5:n.1365T>C
ENST00000555020.5:n.1354T>C
ENST00000555086.5:n.1000T>C
ENST00000555754.1:n.341T>C
ENST00000556278.1:c.432+614T>C ENSP00000451792.1:n.432+614T>C
ENST00000557706.5:n.1468T>C
NM_000155.3:c.893T>C NP_000146.2:p.Met298Thr
NM_001258332.1:c.566T>C NP_001245261.1:p.Met189Thr
NM_000155.4:c.893T>C MANE Select NP_000146.2:p.Met298Thr
NM_001258332.2:c.566T>C NP_001245261.1:p.Met189Thr