Canonical Allele Identifier: CA5036040

Gene: GALT

Linked Data

• dbSNP Id: rs369739316
• ExAC: 9:34647238 A / G
• gnomAD v2: 9-34647238-A-G
• gnomAD v3: 9-34647241-A-G
• gnomAD v4: 9-34647241-A-G
• MyVariant Identifiers: chr9:g.34647238A>G (hg19) ; chr9:g.34647241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647241A>G , CM000671.2:g.34647241A>G	GRCh38
NC_000009.11:g.34647238A>G , CM000671.1:g.34647238A>G	GRCh37
NC_000009.10:g.34637238A>G	NCBI36
NG_009029.1:g.5604A>G
NG_028966.1:g.57A>G
NG_009029.2:g.5653A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.235A>G	ENSP00000509954.1:p.Ile79Val
ENST00000378842.8:c.235A>G MANE Select	ENSP00000368119.4:p.Ile79Val
ENST00000378842.7:c.235A>G	ENSP00000368119.3:p.Ile79Val
ENST00000450095.6:c.33A>G	ENSP00000401956.2:p.Pro11=
ENST00000465543.6:n.574A>G
ENST00000468099.2:n.275A>G
ENST00000472111.5:n.276A>G
ENST00000473506.6:c.235A>G	ENSP00000432839.2:p.Ile79Val
ENST00000473529.5:n.282A>G
ENST00000485531.1:n.228A>G
ENST00000487381.5:n.261A>G
ENST00000489643.6:n.265A>G
ENST00000554085.5:c.235A>G	ENSP00000450419.1:p.Ile79Val
ENST00000554139.5:n.288A>G
ENST00000554330.5:n.232A>G
ENST00000554550.5:c.235A>G	ENSP00000451435.1:p.Ile79Val
ENST00000554638.5:n.259A>G
ENST00000554897.5:c.235A>G	ENSP00000450942.1:p.Ile79Val
ENST00000554944.5:n.265A>G
ENST00000555020.5:n.265A>G
ENST00000555086.5:n.239A>G
ENST00000555214.5:n.244A>G
ENST00000556157.1:n.342A>G
ENST00000556244.1:c.119A>G
ENST00000556278.1:c.235A>G	ENSP00000451792.1:p.Ile79Val
ENST00000556403.5:n.248A>G
ENST00000556494.5:n.267A>G
ENST00000557541.5:n.428A>G
ENST00000557706.5:n.349A>G
NM_000155.3:c.235A>G	NP_000146.2:p.Ile79Val
NM_001258332.1:c.33A>G	NP_001245261.1:p.Pro11=
NM_000155.4:c.235A>G MANE Select	NP_000146.2:p.Ile79Val
NM_001258332.2:c.33A>G	NP_001245261.1:p.Pro11=