Canonical Allele Identifier: CA373284874
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649461A>G , CM000671.2:g.34649461A>G GRCh38
NC_000009.11:g.34649458A>G , CM000671.1:g.34649458A>G GRCh37
NC_000009.10:g.34639458A>G NCBI36
NG_009029.1:g.7824A>G
NG_028966.1:g.2277A>G
NG_009029.2:g.7873A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*544A>G ENSP00000509954.1:n.*544A>G
ENST00000378842.8:c.956A>G MANE Select ENSP00000368119.4:p.His319Arg
ENST00000378842.7:c.956A>G ENSP00000368119.3:p.His319Arg
ENST00000450095.6:c.629A>G ENSP00000401956.2:p.His210Arg
ENST00000488412.2:n.540A>G
ENST00000489643.6:n.1364A>G
ENST00000554550.5:c.*576A>G ENSP00000451435.1:n.*576A>G
ENST00000554638.5:n.1428A>G
ENST00000555020.5:n.1745A>G
ENST00000555754.1:n.404A>G
ENST00000556278.1:c.432+1005A>G ENSP00000451792.1:n.432+1005A>G
ENST00000557706.5:n.1531A>G
NM_000155.3:c.956A>G NP_000146.2:p.His319Arg
NM_001258332.1:c.629A>G NP_001245261.1:p.His210Arg
NM_000155.4:c.956A>G MANE Select NP_000146.2:p.His319Arg
NM_001258332.2:c.629A>G NP_001245261.1:p.His210Arg