Canonical Allele Identifier: CA373281823

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648336G>T (hg19) ; chr9:g.34648339G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648339G>T , CM000671.2:g.34648339G>T	GRCh38
NC_000009.11:g.34648336G>T , CM000671.1:g.34648336G>T	GRCh37
NC_000009.10:g.34638336G>T	NCBI36
NG_009029.1:g.6702G>T
NG_028966.1:g.1155G>T
NG_009029.2:g.6751G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*158G>T	ENSP00000509954.1:n.*158G>T
ENST00000378842.8:c.570G>T MANE Select	ENSP00000368119.4:p.Trp190Cys
ENST00000378842.7:c.570G>T	ENSP00000368119.3:p.Trp190Cys
ENST00000450095.6:c.243G>T	ENSP00000401956.2:p.Trp81Cys
ENST00000472111.5:n.826G>T
ENST00000473506.6:c.*158G>T	ENSP00000432839.2:n.*158G>T
ENST00000473529.5:n.729G>T
ENST00000485531.1:n.1164G>T
ENST00000487381.5:n.955G>T
ENST00000489643.6:n.345G>T
ENST00000554085.5:c.*314G>T	ENSP00000450419.1:n.*314G>T
ENST00000554139.5:n.816G>T
ENST00000554550.5:c.*190G>T	ENSP00000451435.1:n.*190G>T
ENST00000554638.5:n.1042G>T
ENST00000554897.5:c.*257G>T	ENSP00000450942.1:n.*257G>T
ENST00000554944.5:n.919G>T
ENST00000555020.5:n.726G>T
ENST00000555086.5:n.574G>T
ENST00000555214.5:n.391G>T
ENST00000556244.1:c.557G>T
ENST00000556278.1:c.315G>T	ENSP00000451792.1:p.Trp105Cys
ENST00000556494.5:n.691G>T
ENST00000557706.5:n.1132G>T
NM_000155.3:c.570G>T	NP_000146.2:p.Trp190Cys
NM_001258332.1:c.243G>T	NP_001245261.1:p.Trp81Cys
NM_000155.4:c.570G>T MANE Select	NP_000146.2:p.Trp190Cys
NM_001258332.2:c.243G>T	NP_001245261.1:p.Trp81Cys