Canonical Allele Identifier: CA464595845
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647688-G-A
MyVariant Identifiers: chr9:g.34647685G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647688G>A , CM000671.2:g.34647688G>A GRCh38
NC_000009.11:g.34647685G>A , CM000671.1:g.34647685G>A GRCh37
NC_000009.10:g.34637685G>A NCBI36
NG_009029.1:g.6051G>A
NG_028966.1:g.504G>A
NG_009029.2:g.6100G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+121G>A ENSP00000509954.1:n.328+121G>A
ENST00000378842.8:c.360G>A MANE Select ENSP00000368119.4:p.Lys120=
ENST00000378842.7:c.360G>A ENSP00000368119.3:p.Lys120=
ENST00000450095.6:c.51-144G>A ENSP00000401956.2:n.51-144G>A
ENST00000465543.6:n.699G>A
ENST00000472111.5:n.490G>A
ENST00000473506.6:c.311G>A ENSP00000432839.2:p.Ser104Asn
ENST00000473529.5:n.496G>A
ENST00000485531.1:n.675G>A
ENST00000487381.5:n.619G>A
ENST00000489643.6:n.283-427G>A
ENST00000554085.5:c.*104G>A ENSP00000450419.1:n.*104G>A
ENST00000554139.5:n.413G>A
ENST00000554330.5:n.397G>A
ENST00000554550.5:c.253-144G>A ENSP00000451435.1:n.253-144G>A
ENST00000554638.5:n.706G>A
ENST00000554897.5:c.253-144G>A ENSP00000450942.1:n.253-144G>A
ENST00000554944.5:n.430G>A
ENST00000555020.5:n.390G>A
ENST00000555086.5:n.364G>A
ENST00000555214.5:n.262-360G>A
ENST00000556157.1:n.484G>A
ENST00000556244.1:c.347G>A
ENST00000556278.1:c.253-427G>A ENSP00000451792.1:n.253-427G>A
ENST00000556403.5:n.462G>A
ENST00000556494.5:n.481G>A
ENST00000557541.5:n.504G>A
ENST00000557706.5:n.796G>A
NM_000155.3:c.360G>A NP_000146.2:p.Lys120=
NM_001258332.1:c.51-144G>A NP_001245261.1:n.51-144G>A
NM_000155.4:c.360G>A MANE Select NP_000146.2:p.Lys120=
NM_001258332.2:c.51-144G>A NP_001245261.1:n.51-144G>A