Canonical Allele Identifier: CA4946396

Gene: GPT

Linked Data

• dbSNP Id: rs1063739
• ExAC: 8:145729727 C / A
• gnomAD v2: 8-145729727-C-A
• gnomAD v3: 8-144504344-C-A
• gnomAD v4: 8-144504344-C-A
• MyVariant Identifiers: chr8:g.145729727C>A (hg19) ; chr8:g.144504344C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000394955.3:c.40C>A MANE Select	ENSP00000378408.2:p.His14Asn
ENST00000354769.8:n.205C>A
ENST00000394955.2:c.40C>A	ENSP00000378408.2:p.His14Asn
ENST00000527165.5:n.608C>A
ENST00000527961.1:n.124C>A
ENST00000528431.5:c.40C>A	ENSP00000433586.1:p.His14Asn
ENST00000531330.5:n.205C>A
ENST00000534702.5:n.205C>A
NM_005309.2:c.40C>A	NP_005300.1:p.His14Asn
XM_011516993.1:c.40C>A	XP_011515295.1:p.His14Asn
XR_928744.1:n.114+621G>T
XM_011516993.2:c.40C>A	XP_011515295.1:p.His14Asn
XR_001746139.2:n.103+1028G>T
XR_001746140.2:n.253+621G>T
NM_005309.3:c.40C>A MANE Select	NP_005300.1:p.His14Asn
NM_001382664.1:c.40C>A	NP_001369593.1:p.His14Asn
NM_001382665.1:c.40C>A	NP_001369594.1:p.His14Asn
NR_168476.1:n.205C>A
NR_168477.1:n.205C>A