Canonical Allele Identifier: CA187667072

Gene: GPT

Linked Data

• dbSNP Id: rs148879135
• gnomAD v2: 8-145729628-A-G
• gnomAD v3: 8-144504245-A-G
• gnomAD v4: 8-144504245-A-G
• MyVariant Identifiers: chr8:g.145729628A>G (hg19) ; chr8:g.144504245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144504245A>G , CM000670.2:g.144504245A>G	GRCh38
NC_000008.10:g.145729628A>G , CM000670.1:g.145729628A>G	GRCh37
NC_000008.9:g.145700436A>G	NCBI36
NG_015828.1:g.5164A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394955.3:c.-60A>G MANE Select	ENSP00000378408.2:n.-60A>G
ENST00000354769.8:n.106A>G
ENST00000394955.2:c.-60A>G	ENSP00000378408.2:n.-60A>G
ENST00000527165.5:n.509A>G
ENST00000527961.1:n.25A>G
ENST00000528431.5:c.-4-56A>G	ENSP00000433586.1:n.-4-56A>G
ENST00000531330.5:n.106A>G
ENST00000534702.5:n.106A>G
NM_005309.2:c.-60A>G	NP_005300.1:n.-60A>G
XM_011516993.1:c.-4-56A>G	XP_011515295.1:n.-4-56A>G
XR_928744.1:n.114+720T>C
XM_011516993.2:c.-4-56A>G	XP_011515295.1:n.-4-56A>G
XR_001746139.2:n.103+1127T>C
XR_001746140.2:n.253+720T>C
NM_005309.3:c.-60A>G MANE Select	NP_005300.1:n.-60A>G
NM_001382664.1:c.-4-56A>G	NP_001369593.1:n.-4-56A>G
NM_001382665.1:c.-60A>G	NP_001369594.1:n.-60A>G
NR_168476.1:n.106A>G
NR_168477.1:n.106A>G