Canonical Allele Identifier: CA373280632

Gene: GALT

Linked Data

• dbSNP Id: rs1357145844
• gnomAD v2: 9-34647851-T-C
• MyVariant Identifiers: chr9:g.34647851T>C (hg19) ; chr9:g.34647854T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647854T>C , CM000671.2:g.34647854T>C	GRCh38
NC_000009.11:g.34647851T>C , CM000671.1:g.34647851T>C	GRCh37
NC_000009.10:g.34637851T>C	NCBI36
NG_009029.1:g.6217T>C
NG_028966.1:g.670T>C
NG_009029.2:g.6266T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.351T>C	ENSP00000509954.1:p.Pro117=
ENST00000378842.8:c.400T>C MANE Select	ENSP00000368119.4:p.Trp134Arg
ENST00000378842.7:c.400T>C	ENSP00000368119.3:p.Trp134Arg
ENST00000450095.6:c.73T>C	ENSP00000401956.2:p.Trp25Arg
ENST00000465543.6:n.739T>C
ENST00000472111.5:n.656T>C
ENST00000473506.6:c.351T>C	ENSP00000432839.2:p.Pro117=
ENST00000473529.5:n.536T>C
ENST00000485531.1:n.841T>C
ENST00000487381.5:n.785T>C
ENST00000489643.6:n.283-261T>C
ENST00000554085.5:c.*144T>C	ENSP00000450419.1:n.*144T>C
ENST00000554139.5:n.579T>C
ENST00000554550.5:c.*20T>C	ENSP00000451435.1:n.*20T>C
ENST00000554638.5:n.872T>C
ENST00000554897.5:c.*20T>C	ENSP00000450942.1:n.*20T>C
ENST00000554944.5:n.596T>C
ENST00000555020.5:n.556T>C
ENST00000555086.5:n.404T>C
ENST00000555214.5:n.262-194T>C
ENST00000556244.1:c.387T>C
ENST00000556278.1:c.253-261T>C	ENSP00000451792.1:n.253-261T>C
ENST00000556494.5:n.521T>C
ENST00000557541.5:n.544T>C
ENST00000557706.5:n.962T>C
NM_000155.3:c.400T>C	NP_000146.2:p.Trp134Arg
NM_001258332.1:c.73T>C	NP_001245261.1:p.Trp25Arg
NM_000155.4:c.400T>C MANE Select	NP_000146.2:p.Trp134Arg
NM_001258332.2:c.73T>C	NP_001245261.1:p.Trp25Arg