Canonical Allele Identifier: CA373278182
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646714A>C , CM000671.2:g.34646714A>C GRCh38
NC_000009.11:g.34646711A>C , CM000671.1:g.34646711A>C GRCh37
NC_000009.10:g.34636711A>C NCBI36
NG_009029.1:g.5077A>C
NG_009029.2:g.5126A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.10A>C ENSP00000509954.1:p.Ser4Arg
ENST00000378842.8:c.10A>C MANE Select ENSP00000368119.4:p.Ser4Arg
ENST00000378842.7:c.10A>C ENSP00000368119.3:p.Ser4Arg
ENST00000450095.6:c.-193A>C ENSP00000401956.2:n.-193A>C
ENST00000465543.6:n.47A>C
ENST00000468099.2:n.82A>C
ENST00000472111.5:n.51A>C
ENST00000473506.6:c.10A>C ENSP00000432839.2:p.Ser4Arg
ENST00000473529.5:n.57A>C
ENST00000487381.5:n.36A>C
ENST00000489643.6:n.40A>C
ENST00000554085.5:c.10A>C ENSP00000450419.1:p.Ser4Arg
ENST00000554139.5:n.63A>C
ENST00000554550.5:c.10A>C ENSP00000451435.1:p.Ser4Arg
ENST00000554638.5:n.34A>C
ENST00000554897.5:c.10A>C ENSP00000450942.1:p.Ser4Arg
ENST00000554944.5:n.40A>C
ENST00000555020.5:n.40A>C
ENST00000555214.5:n.19A>C
ENST00000556278.1:c.10A>C ENSP00000451792.1:p.Ser4Arg
ENST00000557541.5:n.70A>C
ENST00000605275.1:n.246A>C
NM_000155.3:c.10A>C NP_000146.2:p.Ser4Arg
NM_001258332.1:c.-193A>C NP_001245261.1:n.-193A>C
NM_000155.4:c.10A>C MANE Select NP_000146.2:p.Ser4Arg
NM_001258332.2:c.-193A>C NP_001245261.1:n.-193A>C