Canonical Allele Identifier: CA464595842
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647685-A-G
MyVariant Identifiers: chr9:g.34647682A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647685A>G , CM000671.2:g.34647685A>G GRCh38
NC_000009.11:g.34647682A>G , CM000671.1:g.34647682A>G GRCh37
NC_000009.10:g.34637682A>G NCBI36
NG_009029.1:g.6048A>G
NG_028966.1:g.501A>G
NG_009029.2:g.6097A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+118A>G ENSP00000509954.1:n.328+118A>G
ENST00000378842.8:c.357A>G MANE Select ENSP00000368119.4:p.Ala119=
ENST00000378842.7:c.357A>G ENSP00000368119.3:p.Ala119=
ENST00000450095.6:c.51-147A>G ENSP00000401956.2:n.51-147A>G
ENST00000465543.6:n.696A>G
ENST00000472111.5:n.487A>G
ENST00000473506.6:c.308A>G ENSP00000432839.2:p.Gln103Arg
ENST00000473529.5:n.493A>G
ENST00000485531.1:n.672A>G
ENST00000487381.5:n.616A>G
ENST00000489643.6:n.282+427A>G
ENST00000554085.5:c.*101A>G ENSP00000450419.1:n.*101A>G
ENST00000554139.5:n.410A>G
ENST00000554330.5:n.394A>G
ENST00000554550.5:c.253-147A>G ENSP00000451435.1:n.253-147A>G
ENST00000554638.5:n.703A>G
ENST00000554897.5:c.253-147A>G ENSP00000450942.1:n.253-147A>G
ENST00000554944.5:n.427A>G
ENST00000555020.5:n.387A>G
ENST00000555086.5:n.361A>G
ENST00000555214.5:n.262-363A>G
ENST00000556157.1:n.481A>G
ENST00000556244.1:c.344A>G
ENST00000556278.1:c.252+427A>G ENSP00000451792.1:n.252+427A>G
ENST00000556403.5:n.459A>G
ENST00000556494.5:n.478A>G
ENST00000557541.5:n.501A>G
ENST00000557706.5:n.793A>G
NM_000155.3:c.357A>G NP_000146.2:p.Ala119=
NM_001258332.1:c.51-147A>G NP_001245261.1:n.51-147A>G
NM_000155.4:c.357A>G MANE Select NP_000146.2:p.Ala119=
NM_001258332.2:c.51-147A>G NP_001245261.1:n.51-147A>G