Canonical Allele Identifier: CA863494910
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs759969803
gnomAD v3: 9-34647443-A-T
gnomAD v4: 9-34647443-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647443A>T , CM000671.2:g.34647443A>T GRCh38
NC_000009.11:g.34647440A>T , CM000671.1:g.34647440A>T GRCh37
NC_000009.10:g.34637440A>T NCBI36
NG_009029.1:g.5806A>T
NG_028966.1:g.259A>T
NG_009029.2:g.5855A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.253-49A>T ENSP00000509954.1:n.253-49A>T
ENST00000378842.8:c.253-49A>T MANE Select ENSP00000368119.4:n.253-49A>T
ENST00000378842.7:c.253-49A>T ENSP00000368119.3:n.253-49A>T
ENST00000450095.6:c.50+185A>T ENSP00000401956.2:n.50+185A>T
ENST00000465543.6:n.592-49A>T
ENST00000468099.2:n.477A>T
ENST00000472111.5:n.294-49A>T
ENST00000473506.6:c.253-98A>T ENSP00000432839.2:n.253-98A>T
ENST00000473529.5:n.300-49A>T
ENST00000485531.1:n.430A>T
ENST00000487381.5:n.463A>T
ENST00000489643.6:n.282+185A>T
ENST00000554085.5:c.253-32A>T ENSP00000450419.1:n.253-32A>T
ENST00000554139.5:n.306-49A>T
ENST00000554330.5:n.250-98A>T
ENST00000554550.5:c.252+185A>T ENSP00000451435.1:n.252+185A>T
ENST00000554638.5:n.461A>T
ENST00000554897.5:c.252+185A>T ENSP00000450942.1:n.252+185A>T
ENST00000554944.5:n.283-98A>T
ENST00000555020.5:n.283-49A>T
ENST00000555086.5:n.257-49A>T
ENST00000555214.5:n.261+185A>T
ENST00000556157.1:n.360-32A>T
ENST00000556244.1:c.191A>T
ENST00000556278.1:c.252+185A>T ENSP00000451792.1:n.252+185A>T
ENST00000556403.5:n.266-49A>T
ENST00000556494.5:n.285-49A>T
ENST00000557541.5:n.446-98A>T
ENST00000557706.5:n.551A>T
NM_000155.3:c.253-49A>T NP_000146.2:n.253-49A>T
NM_001258332.1:c.50+185A>T NP_001245261.1:n.50+185A>T
NM_000155.4:c.253-49A>T MANE Select NP_000146.2:n.253-49A>T
NM_001258332.2:c.50+185A>T NP_001245261.1:n.50+185A>T