Canonical Allele Identifier: CA10603777

Gene: GALT

Linked Data

• ClinVar Variation Id: 281008
• ClinVar RCV Id: RCV000322916
• dbSNP Id: rs886042074
• MyVariant Identifiers: chr9:g.34647142C>G (hg19) ; chr9:g.34647145C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647145C>G , CM000671.2:g.34647145C>G	GRCh38
NC_000009.11:g.34647142C>G , CM000671.1:g.34647142C>G	GRCh37
NC_000009.10:g.34637142C>G	NCBI36
NG_009029.1:g.5508C>G
NG_009029.2:g.5557C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.139C>G	ENSP00000509954.1:p.His47Asp
ENST00000378842.8:c.139C>G MANE Select	ENSP00000368119.4:p.His47Asp
ENST00000378842.7:c.139C>G	ENSP00000368119.3:p.His47Asp
ENST00000450095.6:c.-64C>G	ENSP00000401956.2:n.-64C>G
ENST00000465543.6:n.478C>G
ENST00000468099.2:n.179C>G
ENST00000472111.5:n.180C>G
ENST00000473506.6:c.139C>G	ENSP00000432839.2:p.His47Asp
ENST00000473529.5:n.186C>G
ENST00000485531.1:n.132C>G
ENST00000487381.5:n.165C>G
ENST00000489643.6:n.169C>G
ENST00000554085.5:c.139C>G	ENSP00000450419.1:p.His47Asp
ENST00000554139.5:n.192C>G
ENST00000554330.5:n.136C>G
ENST00000554550.5:c.139C>G	ENSP00000451435.1:p.His47Asp
ENST00000554638.5:n.163C>G
ENST00000554897.5:c.139C>G	ENSP00000450942.1:p.His47Asp
ENST00000554944.5:n.169C>G
ENST00000555020.5:n.169C>G
ENST00000555086.5:n.143C>G
ENST00000555214.5:n.148C>G
ENST00000556157.1:n.246C>G
ENST00000556244.1:c.23C>G
ENST00000556278.1:c.139C>G	ENSP00000451792.1:p.His47Asp
ENST00000556403.5:n.152C>G
ENST00000556494.5:n.171C>G
ENST00000557541.5:n.332C>G
ENST00000557706.5:n.253C>G
ENST00000605275.1:n.677C>G
NM_000155.3:c.139C>G	NP_000146.2:p.His47Asp
NM_001258332.1:c.-64C>G	NP_001245261.1:n.-64C>G
NM_000155.4:c.139C>G MANE Select	NP_000146.2:p.His47Asp
NM_001258332.2:c.-64C>G	NP_001245261.1:n.-64C>G