Canonical Allele Identifier: CA373278475
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1288345141
gnomAD v2: 9-34647092-A-C
gnomAD v3: 9-34647095-A-C
gnomAD v4: 9-34647095-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647095A>C , CM000671.2:g.34647095A>C GRCh38
NC_000009.11:g.34647092A>C , CM000671.1:g.34647092A>C GRCh37
NC_000009.10:g.34637092A>C NCBI36
NG_009029.1:g.5458A>C
NG_009029.2:g.5507A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.89A>C ENSP00000509954.1:p.Gln30Pro
ENST00000378842.8:c.89A>C MANE Select ENSP00000368119.4:p.Gln30Pro
ENST00000378842.7:c.89A>C ENSP00000368119.3:p.Gln30Pro
ENST00000450095.6:c.-114A>C ENSP00000401956.2:n.-114A>C
ENST00000465543.6:n.428A>C
ENST00000468099.2:n.155-26A>C
ENST00000472111.5:n.130A>C
ENST00000473506.6:c.89A>C ENSP00000432839.2:p.Gln30Pro
ENST00000473529.5:n.136A>C
ENST00000485531.1:n.82A>C
ENST00000487381.5:n.115A>C
ENST00000489643.6:n.119A>C
ENST00000554085.5:c.89A>C ENSP00000450419.1:p.Gln30Pro
ENST00000554139.5:n.142A>C
ENST00000554330.5:n.86A>C
ENST00000554550.5:c.89A>C ENSP00000451435.1:p.Gln30Pro
ENST00000554638.5:n.113A>C
ENST00000554897.5:c.89A>C ENSP00000450942.1:p.Gln30Pro
ENST00000554944.5:n.119A>C
ENST00000555020.5:n.119A>C
ENST00000555086.5:n.93A>C
ENST00000555214.5:n.98A>C
ENST00000556157.1:n.196A>C
ENST00000556278.1:c.89A>C ENSP00000451792.1:p.Gln30Pro
ENST00000556403.5:n.102A>C
ENST00000556494.5:n.121A>C
ENST00000557541.5:n.282A>C
ENST00000557706.5:n.203A>C
ENST00000605275.1:n.627A>C
NM_000155.3:c.89A>C NP_000146.2:p.Gln30Pro
NM_001258332.1:c.-114A>C NP_001245261.1:n.-114A>C
NM_000155.4:c.89A>C MANE Select NP_000146.2:p.Gln30Pro
NM_001258332.2:c.-114A>C NP_001245261.1:n.-114A>C