Canonical Allele Identifier: CA266761

Gene: GALT

Linked Data

• ClinVar Variation Id: 92520
• ClinVar RCV Id: RCV000078229 ; RCV003398667
• dbSNP Id: rs398123184
• MyVariant Identifiers: chr9:g.34648334T>C (hg19) ; chr9:g.34648337T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648337T>C , CM000671.2:g.34648337T>C	GRCh38
NC_000009.11:g.34648334T>C , CM000671.1:g.34648334T>C	GRCh37
NC_000009.10:g.34638334T>C	NCBI36
NG_009029.1:g.6700T>C
NG_028966.1:g.1153T>C
NG_009029.2:g.6749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*156T>C	ENSP00000509954.1:n.*156T>C
ENST00000378842.8:c.568T>C MANE Select	ENSP00000368119.4:p.Trp190Arg
ENST00000378842.7:c.568T>C	ENSP00000368119.3:p.Trp190Arg
ENST00000450095.6:c.241T>C	ENSP00000401956.2:p.Trp81Arg
ENST00000472111.5:n.824T>C
ENST00000473506.6:c.*156T>C	ENSP00000432839.2:n.*156T>C
ENST00000473529.5:n.727T>C
ENST00000485531.1:n.1162T>C
ENST00000487381.5:n.953T>C
ENST00000489643.6:n.343T>C
ENST00000554085.5:c.*312T>C	ENSP00000450419.1:n.*312T>C
ENST00000554139.5:n.814T>C
ENST00000554550.5:c.*188T>C	ENSP00000451435.1:n.*188T>C
ENST00000554638.5:n.1040T>C
ENST00000554897.5:c.*255T>C	ENSP00000450942.1:n.*255T>C
ENST00000554944.5:n.917T>C
ENST00000555020.5:n.724T>C
ENST00000555086.5:n.572T>C
ENST00000555214.5:n.389T>C
ENST00000556244.1:c.555T>C
ENST00000556278.1:c.313T>C	ENSP00000451792.1:p.Trp105Arg
ENST00000556494.5:n.689T>C
ENST00000557706.5:n.1130T>C
NM_000155.3:c.568T>C	NP_000146.2:p.Trp190Arg
NM_001258332.1:c.241T>C	NP_001245261.1:p.Trp81Arg
NM_000155.4:c.568T>C MANE Select	NP_000146.2:p.Trp190Arg
NM_001258332.2:c.241T>C	NP_001245261.1:p.Trp81Arg