Canonical Allele Identifier: CA464402342

Gene: GALT

Linked Data

• gnomAD v4: 9-34648441-G-A
• MyVariant Identifiers: chr9:g.34648438G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648441G>A , CM000671.2:g.34648441G>A	GRCh38
NC_000009.11:g.34648438G>A , CM000671.1:g.34648438G>A	GRCh37
NC_000009.10:g.34638438G>A	NCBI36
NG_009029.1:g.6804G>A
NG_028966.1:g.1257G>A
NG_009029.2:g.6853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*260G>A	ENSP00000509954.1:n.*260G>A
ENST00000378842.8:c.672G>A MANE Select	ENSP00000368119.4:p.Gln224=
ENST00000378842.7:c.672G>A	ENSP00000368119.3:p.Gln224=
ENST00000450095.6:c.345G>A	ENSP00000401956.2:p.Gln115=
ENST00000472111.5:n.928G>A
ENST00000473506.6:c.*260G>A	ENSP00000432839.2:n.*260G>A
ENST00000473529.5:n.831G>A
ENST00000487381.5:n.1057G>A
ENST00000489643.6:n.447G>A
ENST00000554085.5:c.*416G>A	ENSP00000450419.1:n.*416G>A
ENST00000554550.5:c.*292G>A	ENSP00000451435.1:n.*292G>A
ENST00000554638.5:n.1144G>A
ENST00000555020.5:n.828G>A
ENST00000555086.5:n.676G>A
ENST00000555214.5:n.493G>A
ENST00000555754.1:n.17G>A
ENST00000556244.1:c.659G>A
ENST00000556278.1:c.417G>A	ENSP00000451792.1:p.Gln139=
ENST00000556494.5:n.793G>A
ENST00000557706.5:n.1234G>A
NM_000155.3:c.672G>A	NP_000146.2:p.Gln224=
NM_001258332.1:c.345G>A	NP_001245261.1:p.Gln115=
NM_000155.4:c.672G>A MANE Select	NP_000146.2:p.Gln224=
NM_001258332.2:c.345G>A	NP_001245261.1:p.Gln115=