Canonical Allele Identifier: CA259318
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033834
MyVariant Identifiers: chr9:g.34647093G>C (hg19) chr9:g.34647096G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647096G>C , CM000671.2:g.34647096G>C GRCh38
NC_000009.11:g.34647093G>C , CM000671.1:g.34647093G>C GRCh37
NC_000009.10:g.34637093G>C NCBI36
NG_009029.1:g.5459G>C
NG_009029.2:g.5508G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.90G>C ENSP00000509954.1:p.Gln30His
ENST00000378842.8:c.90G>C MANE Select ENSP00000368119.4:p.Gln30His
ENST00000378842.7:c.90G>C ENSP00000368119.3:p.Gln30His
ENST00000450095.6:c.-113G>C ENSP00000401956.2:n.-113G>C
ENST00000465543.6:n.429G>C
ENST00000468099.2:n.155-25G>C
ENST00000472111.5:n.131G>C
ENST00000473506.6:c.90G>C ENSP00000432839.2:p.Gln30His
ENST00000473529.5:n.137G>C
ENST00000485531.1:n.83G>C
ENST00000487381.5:n.116G>C
ENST00000489643.6:n.120G>C
ENST00000554085.5:c.90G>C ENSP00000450419.1:p.Gln30His
ENST00000554139.5:n.143G>C
ENST00000554330.5:n.87G>C
ENST00000554550.5:c.90G>C ENSP00000451435.1:p.Gln30His
ENST00000554638.5:n.114G>C
ENST00000554897.5:c.90G>C ENSP00000450942.1:p.Gln30His
ENST00000554944.5:n.120G>C
ENST00000555020.5:n.120G>C
ENST00000555086.5:n.94G>C
ENST00000555214.5:n.99G>C
ENST00000556157.1:n.197G>C
ENST00000556278.1:c.90G>C ENSP00000451792.1:p.Gln30His
ENST00000556403.5:n.103G>C
ENST00000556494.5:n.122G>C
ENST00000557541.5:n.283G>C
ENST00000557706.5:n.204G>C
ENST00000605275.1:n.628G>C
NM_000155.3:c.90G>C NP_000146.2:p.Gln30His
NM_001258332.1:c.-113G>C NP_001245261.1:n.-113G>C
NM_000155.4:c.90G>C MANE Select NP_000146.2:p.Gln30His
NM_001258332.2:c.-113G>C NP_001245261.1:n.-113G>C
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