Canonical Allele Identifier: CA373278642

Gene: GALT

Linked Data

• gnomAD v4: 9-34647166-C-A
• MyVariant Identifiers: chr9:g.34647163C>A (hg19) ; chr9:g.34647166C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647166C>A , CM000671.2:g.34647166C>A	GRCh38
NC_000009.11:g.34647163C>A , CM000671.1:g.34647163C>A	GRCh37
NC_000009.10:g.34637163C>A	NCBI36
NG_009029.1:g.5529C>A
NG_009029.2:g.5578C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.160C>A	ENSP00000509954.1:p.Gln54Lys
ENST00000378842.8:c.160C>A MANE Select	ENSP00000368119.4:p.Gln54Lys
ENST00000378842.7:c.160C>A	ENSP00000368119.3:p.Gln54Lys
ENST00000450095.6:c.-43C>A	ENSP00000401956.2:n.-43C>A
ENST00000465543.6:n.499C>A
ENST00000468099.2:n.200C>A
ENST00000472111.5:n.201C>A
ENST00000473506.6:c.160C>A	ENSP00000432839.2:p.Gln54Lys
ENST00000473529.5:n.207C>A
ENST00000485531.1:n.153C>A
ENST00000487381.5:n.186C>A
ENST00000489643.6:n.190C>A
ENST00000554085.5:c.160C>A	ENSP00000450419.1:p.Gln54Lys
ENST00000554139.5:n.213C>A
ENST00000554330.5:n.157C>A
ENST00000554550.5:c.160C>A	ENSP00000451435.1:p.Gln54Lys
ENST00000554638.5:n.184C>A
ENST00000554897.5:c.160C>A	ENSP00000450942.1:p.Gln54Lys
ENST00000554944.5:n.190C>A
ENST00000555020.5:n.190C>A
ENST00000555086.5:n.164C>A
ENST00000555214.5:n.169C>A
ENST00000556157.1:n.267C>A
ENST00000556244.1:c.44C>A
ENST00000556278.1:c.160C>A	ENSP00000451792.1:p.Gln54Lys
ENST00000556403.5:n.173C>A
ENST00000556494.5:n.192C>A
ENST00000557541.5:n.353C>A
ENST00000557706.5:n.274C>A
NM_000155.3:c.160C>A	NP_000146.2:p.Gln54Lys
NM_001258332.1:c.-43C>A	NP_001245261.1:n.-43C>A
NM_000155.4:c.160C>A MANE Select	NP_000146.2:p.Gln54Lys
NM_001258332.2:c.-43C>A	NP_001245261.1:n.-43C>A