Canonical Allele Identifier: CA373282302

Gene: GALT

Linked Data

• gnomAD v4: 9-34648435-C-A
• MyVariant Identifiers: chr9:g.34648432C>A (hg19) ; chr9:g.34648435C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648435C>A , CM000671.2:g.34648435C>A	GRCh38
NC_000009.11:g.34648432C>A , CM000671.1:g.34648432C>A	GRCh37
NC_000009.10:g.34638432C>A	NCBI36
NG_009029.1:g.6798C>A
NG_028966.1:g.1251C>A
NG_009029.2:g.6847C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*254C>A	ENSP00000509954.1:n.*254C>A
ENST00000378842.8:c.666C>A MANE Select	ENSP00000368119.4:p.Ser222Arg
ENST00000378842.7:c.666C>A	ENSP00000368119.3:p.Ser222Arg
ENST00000450095.6:c.339C>A	ENSP00000401956.2:p.Ser113Arg
ENST00000472111.5:n.922C>A
ENST00000473506.6:c.*254C>A	ENSP00000432839.2:n.*254C>A
ENST00000473529.5:n.825C>A
ENST00000487381.5:n.1051C>A
ENST00000489643.6:n.441C>A
ENST00000554085.5:c.*410C>A	ENSP00000450419.1:n.*410C>A
ENST00000554550.5:c.*286C>A	ENSP00000451435.1:n.*286C>A
ENST00000554638.5:n.1138C>A
ENST00000555020.5:n.822C>A
ENST00000555086.5:n.670C>A
ENST00000555214.5:n.487C>A
ENST00000555754.1:n.11C>A
ENST00000556244.1:c.653C>A
ENST00000556278.1:c.411C>A	ENSP00000451792.1:p.Ser137Arg
ENST00000556494.5:n.787C>A
ENST00000557706.5:n.1228C>A
NM_000155.3:c.666C>A	NP_000146.2:p.Ser222Arg
NM_001258332.1:c.339C>A	NP_001245261.1:p.Ser113Arg
NM_000155.4:c.666C>A MANE Select	NP_000146.2:p.Ser222Arg
NM_001258332.2:c.339C>A	NP_001245261.1:p.Ser113Arg