Canonical Allele Identifier: CA259395
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033699
MyVariant Identifiers: chr9:g.34647899G>C (hg19) chr9:g.34647902G>C (hg38)
PubMed: PMID:8956044
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647902G>C , CM000671.2:g.34647902G>C GRCh38
NC_000009.11:g.34647899G>C , CM000671.1:g.34647899G>C GRCh37
NC_000009.10:g.34637899G>C NCBI36
NG_009029.1:g.6265G>C
NG_028966.1:g.718G>C
NG_009029.2:g.6314G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*36G>C ENSP00000509954.1:n.*36G>C
ENST00000378842.8:c.448G>C MANE Select ENSP00000368119.4:p.Val150Leu
ENST00000378842.7:c.448G>C ENSP00000368119.3:p.Val150Leu
ENST00000450095.6:c.121G>C ENSP00000401956.2:p.Val41Leu
ENST00000465543.6:n.787G>C
ENST00000472111.5:n.704G>C
ENST00000473506.6:c.*36G>C ENSP00000432839.2:n.*36G>C
ENST00000473529.5:n.584G>C
ENST00000485531.1:n.889G>C
ENST00000487381.5:n.833G>C
ENST00000489643.6:n.283-213G>C
ENST00000554085.5:c.*192G>C ENSP00000450419.1:n.*192G>C
ENST00000554139.5:n.627G>C
ENST00000554550.5:c.*68G>C ENSP00000451435.1:n.*68G>C
ENST00000554638.5:n.920G>C
ENST00000554897.5:c.*68G>C ENSP00000450942.1:n.*68G>C
ENST00000554944.5:n.644G>C
ENST00000555020.5:n.604G>C
ENST00000555086.5:n.452G>C
ENST00000555214.5:n.262-146G>C
ENST00000556244.1:c.435G>C
ENST00000556278.1:c.253-213G>C ENSP00000451792.1:n.253-213G>C
ENST00000556494.5:n.569G>C
ENST00000557541.5:n.592G>C
ENST00000557706.5:n.1010G>C
NM_000155.3:c.448G>C NP_000146.2:p.Val150Leu
NM_001258332.1:c.121G>C NP_001245261.1:p.Val41Leu
NM_000155.4:c.448G>C MANE Select NP_000146.2:p.Val150Leu
NM_001258332.2:c.121G>C NP_001245261.1:p.Val41Leu
Search 100 bp 5'
Search 100 bp 3'