Canonical Allele Identifier: CA373278625

Gene: GALT

Linked Data

• gnomAD v4: 9-34647157-C-T
• MyVariant Identifiers: chr9:g.34647154C>T (hg19) ; chr9:g.34647157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647157C>T , CM000671.2:g.34647157C>T	GRCh38
NC_000009.11:g.34647154C>T , CM000671.1:g.34647154C>T	GRCh37
NC_000009.10:g.34637154C>T	NCBI36
NG_009029.1:g.5520C>T
NG_009029.2:g.5569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.151C>T	ENSP00000509954.1:p.Arg51Trp
ENST00000378842.8:c.151C>T MANE Select	ENSP00000368119.4:p.Arg51Trp
ENST00000378842.7:c.151C>T	ENSP00000368119.3:p.Arg51Trp
ENST00000450095.6:c.-52C>T	ENSP00000401956.2:n.-52C>T
ENST00000465543.6:n.490C>T
ENST00000468099.2:n.191C>T
ENST00000472111.5:n.192C>T
ENST00000473506.6:c.151C>T	ENSP00000432839.2:p.Arg51Trp
ENST00000473529.5:n.198C>T
ENST00000485531.1:n.144C>T
ENST00000487381.5:n.177C>T
ENST00000489643.6:n.181C>T
ENST00000554085.5:c.151C>T	ENSP00000450419.1:p.Arg51Trp
ENST00000554139.5:n.204C>T
ENST00000554330.5:n.148C>T
ENST00000554550.5:c.151C>T	ENSP00000451435.1:p.Arg51Trp
ENST00000554638.5:n.175C>T
ENST00000554897.5:c.151C>T	ENSP00000450942.1:p.Arg51Trp
ENST00000554944.5:n.181C>T
ENST00000555020.5:n.181C>T
ENST00000555086.5:n.155C>T
ENST00000555214.5:n.160C>T
ENST00000556157.1:n.258C>T
ENST00000556244.1:c.35C>T
ENST00000556278.1:c.151C>T	ENSP00000451792.1:p.Arg51Trp
ENST00000556403.5:n.164C>T
ENST00000556494.5:n.183C>T
ENST00000557541.5:n.344C>T
ENST00000557706.5:n.265C>T
NM_000155.3:c.151C>T	NP_000146.2:p.Arg51Trp
NM_001258332.1:c.-52C>T	NP_001245261.1:n.-52C>T
NM_000155.4:c.151C>T MANE Select	NP_000146.2:p.Arg51Trp
NM_001258332.2:c.-52C>T	NP_001245261.1:n.-52C>T