Canonical Allele Identifier: CA126197
Gene: GPT HGNC NCBI

Linked Data

ClinVar Variation Id: 16088
ClinVar RCV Id: RCV000017468
dbSNP Id: rs1063739

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144504344C>G , CM000670.2:g.144504344C>G GRCh38
NC_000008.10:g.145729727C>G , CM000670.1:g.145729727C>G GRCh37
NC_000008.9:g.145700535C>G NCBI36
NG_015828.1:g.5263C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394955.3:c.40C>G MANE Select ENSP00000378408.2:p.His14Asp
ENST00000354769.8:n.205C>G
ENST00000394955.2:c.40C>G ENSP00000378408.2:p.His14Asp
ENST00000527165.5:n.608C>G
ENST00000527961.1:n.124C>G
ENST00000528431.5:c.40C>G ENSP00000433586.1:p.His14Asp
ENST00000531330.5:n.205C>G
ENST00000534702.5:n.205C>G
NM_005309.2:c.40C>G NP_005300.1:p.His14Asp
XM_011516993.1:c.40C>G XP_011515295.1:p.His14Asp
XR_928744.1:n.114+621G>C
XM_011516993.2:c.40C>G XP_011515295.1:p.His14Asp
XR_001746139.2:n.103+1028G>C
XR_001746140.2:n.253+621G>C
NM_005309.3:c.40C>G MANE Select NP_005300.1:p.His14Asp
NM_001382664.1:c.40C>G NP_001369593.1:p.His14Asp
NM_001382665.1:c.40C>G NP_001369594.1:p.His14Asp
NR_168476.1:n.205C>G
NR_168477.1:n.205C>G