Canonical Allele Identifier: CA373285016
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649488G>T , CM000671.2:g.34649488G>T GRCh38
NC_000009.11:g.34649485G>T , CM000671.1:g.34649485G>T GRCh37
NC_000009.10:g.34639485G>T NCBI36
NG_009029.1:g.7851G>T
NG_028966.1:g.2304G>T
NG_009029.2:g.7900G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*571G>T ENSP00000509954.1:n.*571G>T
ENST00000378842.8:c.983G>T MANE Select ENSP00000368119.4:p.Arg328Leu
ENST00000378842.7:c.983G>T ENSP00000368119.3:p.Arg328Leu
ENST00000450095.6:c.656G>T ENSP00000401956.2:p.Arg219Leu
ENST00000488412.2:n.567G>T
ENST00000489643.6:n.1391G>T
ENST00000554550.5:c.*603G>T ENSP00000451435.1:n.*603G>T
ENST00000554638.5:n.1455G>T
ENST00000555020.5:n.1772G>T
ENST00000555754.1:n.431G>T
ENST00000556278.1:c.432+1032G>T ENSP00000451792.1:n.432+1032G>T
ENST00000557706.5:n.1558G>T
NM_000155.3:c.983G>T NP_000146.2:p.Arg328Leu
NM_001258332.1:c.656G>T NP_001245261.1:p.Arg219Leu
NM_000155.4:c.983G>T MANE Select NP_000146.2:p.Arg328Leu
NM_001258332.2:c.656G>T NP_001245261.1:p.Arg219Leu