Canonical Allele Identifier: CA259332
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033649
gnomAD v4: 9-34647166-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647166C>T , CM000671.2:g.34647166C>T GRCh38
NC_000009.11:g.34647163C>T , CM000671.1:g.34647163C>T GRCh37
NC_000009.10:g.34637163C>T NCBI36
NG_009029.1:g.5529C>T
NG_009029.2:g.5578C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.160C>T ENSP00000509954.1:p.Gln54Ter
ENST00000378842.8:c.160C>T MANE Select ENSP00000368119.4:p.Gln54Ter
ENST00000378842.7:c.160C>T ENSP00000368119.3:p.Gln54Ter
ENST00000450095.6:c.-43C>T ENSP00000401956.2:n.-43C>T
ENST00000465543.6:n.499C>T
ENST00000468099.2:n.200C>T
ENST00000472111.5:n.201C>T
ENST00000473506.6:c.160C>T ENSP00000432839.2:p.Gln54Ter
ENST00000473529.5:n.207C>T
ENST00000485531.1:n.153C>T
ENST00000487381.5:n.186C>T
ENST00000489643.6:n.190C>T
ENST00000554085.5:c.160C>T ENSP00000450419.1:p.Gln54Ter
ENST00000554139.5:n.213C>T
ENST00000554330.5:n.157C>T
ENST00000554550.5:c.160C>T ENSP00000451435.1:p.Gln54Ter
ENST00000554638.5:n.184C>T
ENST00000554897.5:c.160C>T ENSP00000450942.1:p.Gln54Ter
ENST00000554944.5:n.190C>T
ENST00000555020.5:n.190C>T
ENST00000555086.5:n.164C>T
ENST00000555214.5:n.169C>T
ENST00000556157.1:n.267C>T
ENST00000556244.1:c.44C>T
ENST00000556278.1:c.160C>T ENSP00000451792.1:p.Gln54Ter
ENST00000556403.5:n.173C>T
ENST00000556494.5:n.192C>T
ENST00000557541.5:n.353C>T
ENST00000557706.5:n.274C>T
NM_000155.3:c.160C>T NP_000146.2:p.Gln54Ter
NM_001258332.1:c.-43C>T NP_001245261.1:n.-43C>T
NM_000155.4:c.160C>T MANE Select NP_000146.2:p.Gln54Ter
NM_001258332.2:c.-43C>T NP_001245261.1:n.-43C>T