Canonical Allele Identifier: CA373279223
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647526A>T , CM000671.2:g.34647526A>T GRCh38
NC_000009.11:g.34647523A>T , CM000671.1:g.34647523A>T GRCh37
NC_000009.10:g.34637523A>T NCBI36
NG_009029.1:g.5889A>T
NG_028966.1:g.342A>T
NG_009029.2:g.5938A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.287A>T ENSP00000509954.1:p.Asp96Val
ENST00000378842.8:c.287A>T MANE Select ENSP00000368119.4:p.Asp96Val
ENST00000378842.7:c.287A>T ENSP00000368119.3:p.Asp96Val
ENST00000450095.6:c.50+268A>T ENSP00000401956.2:n.50+268A>T
ENST00000465543.6:n.626A>T
ENST00000472111.5:n.328A>T
ENST00000473506.6:c.253-15A>T ENSP00000432839.2:n.253-15A>T
ENST00000473529.5:n.334A>T
ENST00000485531.1:n.513A>T
ENST00000487381.5:n.546A>T
ENST00000489643.6:n.282+268A>T
ENST00000554085.5:c.*31A>T ENSP00000450419.1:n.*31A>T
ENST00000554139.5:n.340A>T
ENST00000554330.5:n.250-15A>T
ENST00000554550.5:c.252+268A>T ENSP00000451435.1:n.252+268A>T
ENST00000554638.5:n.544A>T
ENST00000554897.5:c.252+268A>T ENSP00000450942.1:n.252+268A>T
ENST00000554944.5:n.283-15A>T
ENST00000555020.5:n.317A>T
ENST00000555086.5:n.291A>T
ENST00000555214.5:n.261+268A>T
ENST00000556157.1:n.411A>T
ENST00000556244.1:c.274A>T
ENST00000556278.1:c.252+268A>T ENSP00000451792.1:n.252+268A>T
ENST00000556403.5:n.300A>T
ENST00000556494.5:n.319A>T
ENST00000557541.5:n.446-15A>T
ENST00000557706.5:n.634A>T
NM_000155.3:c.287A>T NP_000146.2:p.Asp96Val
NM_001258332.1:c.50+268A>T NP_001245261.1:n.50+268A>T
NM_000155.4:c.287A>T MANE Select NP_000146.2:p.Asp96Val
NM_001258332.2:c.50+268A>T NP_001245261.1:n.50+268A>T