Canonical Allele Identifier: CA373280116

Gene: GALT

Linked Data

• gnomAD v4: 9-34647558-C-T
• MyVariant Identifiers: chr9:g.34647555C>T (hg19) ; chr9:g.34647558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647558C>T , CM000671.2:g.34647558C>T	GRCh38
NC_000009.11:g.34647555C>T , CM000671.1:g.34647555C>T	GRCh37
NC_000009.10:g.34637555C>T	NCBI36
NG_009029.1:g.5921C>T
NG_028966.1:g.374C>T
NG_009029.2:g.5970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.319C>T	ENSP00000509954.1:p.Pro107Ser
ENST00000378842.8:c.319C>T MANE Select	ENSP00000368119.4:p.Pro107Ser
ENST00000378842.7:c.319C>T	ENSP00000368119.3:p.Pro107Ser
ENST00000450095.6:c.51-274C>T	ENSP00000401956.2:n.51-274C>T
ENST00000465543.6:n.658C>T
ENST00000472111.5:n.360C>T
ENST00000473506.6:c.270C>T	ENSP00000432839.2:p.Pro90=
ENST00000473529.5:n.366C>T
ENST00000485531.1:n.545C>T
ENST00000487381.5:n.578C>T
ENST00000489643.6:n.282+300C>T
ENST00000554085.5:c.*63C>T	ENSP00000450419.1:n.*63C>T
ENST00000554139.5:n.372C>T
ENST00000554330.5:n.267C>T
ENST00000554550.5:c.253-274C>T	ENSP00000451435.1:n.253-274C>T
ENST00000554638.5:n.576C>T
ENST00000554897.5:c.253-274C>T	ENSP00000450942.1:n.253-274C>T
ENST00000554944.5:n.300C>T
ENST00000555020.5:n.349C>T
ENST00000555086.5:n.323C>T
ENST00000555214.5:n.261+300C>T
ENST00000556157.1:n.443C>T
ENST00000556244.1:c.306C>T
ENST00000556278.1:c.252+300C>T	ENSP00000451792.1:n.252+300C>T
ENST00000556403.5:n.332C>T
ENST00000556494.5:n.351C>T
ENST00000557541.5:n.463C>T
ENST00000557706.5:n.666C>T
NM_000155.3:c.319C>T	NP_000146.2:p.Pro107Ser
NM_001258332.1:c.51-274C>T	NP_001245261.1:n.51-274C>T
NM_000155.4:c.319C>T MANE Select	NP_000146.2:p.Pro107Ser
NM_001258332.2:c.51-274C>T	NP_001245261.1:n.51-274C>T