Canonical Allele Identifier: CA259320
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25122
ClinVar RCV Id: RCV000585998 RCV001826488
dbSNP Id: rs111033643
MyVariant Identifiers: chr9:g.34647094C>A (hg19) chr9:g.34647097C>A (hg38)
PubMed: PMID:22944367
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647097C>A , CM000671.2:g.34647097C>A GRCh38
NC_000009.11:g.34647094C>A , CM000671.1:g.34647094C>A GRCh37
NC_000009.10:g.34637094C>A NCBI36
NG_009029.1:g.5460C>A
NG_009029.2:g.5509C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.91C>A ENSP00000509954.1:p.His31Asn
ENST00000378842.8:c.91C>A MANE Select ENSP00000368119.4:p.His31Asn
ENST00000378842.7:c.91C>A ENSP00000368119.3:p.His31Asn
ENST00000450095.6:c.-112C>A ENSP00000401956.2:n.-112C>A
ENST00000465543.6:n.430C>A
ENST00000468099.2:n.155-24C>A
ENST00000472111.5:n.132C>A
ENST00000473506.6:c.91C>A ENSP00000432839.2:p.His31Asn
ENST00000473529.5:n.138C>A
ENST00000485531.1:n.84C>A
ENST00000487381.5:n.117C>A
ENST00000489643.6:n.121C>A
ENST00000554085.5:c.91C>A ENSP00000450419.1:p.His31Asn
ENST00000554139.5:n.144C>A
ENST00000554330.5:n.88C>A
ENST00000554550.5:c.91C>A ENSP00000451435.1:p.His31Asn
ENST00000554638.5:n.115C>A
ENST00000554897.5:c.91C>A ENSP00000450942.1:p.His31Asn
ENST00000554944.5:n.121C>A
ENST00000555020.5:n.121C>A
ENST00000555086.5:n.95C>A
ENST00000555214.5:n.100C>A
ENST00000556157.1:n.198C>A
ENST00000556278.1:c.91C>A ENSP00000451792.1:p.His31Asn
ENST00000556403.5:n.104C>A
ENST00000556494.5:n.123C>A
ENST00000557541.5:n.284C>A
ENST00000557706.5:n.205C>A
ENST00000605275.1:n.629C>A
NM_000155.3:c.91C>A NP_000146.2:p.His31Asn
NM_001258332.1:c.-112C>A NP_001245261.1:n.-112C>A
NM_000155.4:c.91C>A MANE Select NP_000146.2:p.His31Asn
NM_001258332.2:c.-112C>A NP_001245261.1:n.-112C>A
Search 100 bp 5'
Search 100 bp 3'