Canonical Allele Identifier: CA259427

Gene: GALT

Linked Data

• dbSNP Id: rs111033844
• MyVariant Identifiers: chr9:g.34648143G>T (hg19) ; chr9:g.34648146G>T (hg38)
• PubMed: PMID:19375122

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648146G>T , CM000671.2:g.34648146G>T	GRCh38
NC_000009.11:g.34648143G>T , CM000671.1:g.34648143G>T	GRCh37
NC_000009.10:g.34638143G>T	NCBI36
NG_009029.1:g.6509G>T
NG_028966.1:g.962G>T
NG_009029.2:g.6558G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*127G>T	ENSP00000509954.1:n.*127G>T
ENST00000378842.8:c.539G>T MANE Select	ENSP00000368119.4:p.Cys180Phe
ENST00000378842.7:c.539G>T	ENSP00000368119.3:p.Cys180Phe
ENST00000450095.6:c.212G>T	ENSP00000401956.2:p.Cys71Phe
ENST00000465543.6:n.878G>T
ENST00000472111.5:n.795G>T
ENST00000473506.6:c.*127G>T	ENSP00000432839.2:n.*127G>T
ENST00000473529.5:n.698G>T
ENST00000485531.1:n.1133G>T
ENST00000487381.5:n.924G>T
ENST00000489643.6:n.314G>T
ENST00000554085.5:c.*283G>T	ENSP00000450419.1:n.*283G>T
ENST00000554139.5:n.785G>T
ENST00000554550.5:c.*159G>T	ENSP00000451435.1:n.*159G>T
ENST00000554638.5:n.1011G>T
ENST00000554897.5:c.*226G>T	ENSP00000450942.1:n.*226G>T
ENST00000554944.5:n.888G>T
ENST00000555020.5:n.695G>T
ENST00000555086.5:n.543G>T
ENST00000555214.5:n.360G>T
ENST00000556244.1:c.526G>T
ENST00000556278.1:c.284G>T	ENSP00000451792.1:p.Cys95Phe
ENST00000556494.5:n.660G>T
ENST00000557706.5:n.1101G>T
NM_000155.3:c.539G>T	NP_000146.2:p.Cys180Phe
NM_001258332.1:c.212G>T	NP_001245261.1:p.Cys71Phe
NM_000155.4:c.539G>T MANE Select	NP_000146.2:p.Cys180Phe
NM_001258332.2:c.212G>T	NP_001245261.1:p.Cys71Phe