Canonical Allele Identifier: CA259398

Gene: GALT

Linked Data

• ClinVar Variation Id: 2907389
• ClinVar RCV Id: RCV003609717
• dbSNP Id: rs111033702
• MyVariant Identifiers: chr9:g.34647911T>C (hg19) ; chr9:g.34647914T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647914T>C , CM000671.2:g.34647914T>C	GRCh38
NC_000009.11:g.34647911T>C , CM000671.1:g.34647911T>C	GRCh37
NC_000009.10:g.34637911T>C	NCBI36
NG_009029.1:g.6277T>C
NG_028966.1:g.730T>C
NG_009029.2:g.6326T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*48T>C	ENSP00000509954.1:n.*48T>C
ENST00000378842.8:c.460T>C MANE Select	ENSP00000368119.4:p.Trp154Arg
ENST00000378842.7:c.460T>C	ENSP00000368119.3:p.Trp154Arg
ENST00000450095.6:c.133T>C	ENSP00000401956.2:p.Trp45Arg
ENST00000465543.6:n.799T>C
ENST00000472111.5:n.716T>C
ENST00000473506.6:c.*48T>C	ENSP00000432839.2:n.*48T>C
ENST00000473529.5:n.596T>C
ENST00000485531.1:n.901T>C
ENST00000487381.5:n.845T>C
ENST00000489643.6:n.283-201T>C
ENST00000554085.5:c.*204T>C	ENSP00000450419.1:n.*204T>C
ENST00000554139.5:n.639T>C
ENST00000554550.5:c.*80T>C	ENSP00000451435.1:n.*80T>C
ENST00000554638.5:n.932T>C
ENST00000554897.5:c.*80T>C	ENSP00000450942.1:n.*80T>C
ENST00000554944.5:n.656T>C
ENST00000555020.5:n.616T>C
ENST00000555086.5:n.464T>C
ENST00000555214.5:n.262-134T>C
ENST00000556244.1:c.447T>C
ENST00000556278.1:c.253-201T>C	ENSP00000451792.1:n.253-201T>C
ENST00000556494.5:n.581T>C
ENST00000557706.5:n.1022T>C
NM_000155.3:c.460T>C	NP_000146.2:p.Trp154Arg
NM_001258332.1:c.133T>C	NP_001245261.1:p.Trp45Arg
NM_000155.4:c.460T>C MANE Select	NP_000146.2:p.Trp154Arg
NM_001258332.2:c.133T>C	NP_001245261.1:p.Trp45Arg