Canonical Allele Identifier: CA4946372

Gene: GPT

Linked Data

• dbSNP Id: rs143578380
• ExAC: 8:145729651 C / T
• gnomAD v2: 8-145729651-C-T
• gnomAD v3: 8-144504268-C-T
• gnomAD v4: 8-144504268-C-T
• MyVariant Identifiers: chr8:g.145729651C>T (hg19) ; chr8:g.144504268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144504268C>T , CM000670.2:g.144504268C>T	GRCh38
NC_000008.10:g.145729651C>T , CM000670.1:g.145729651C>T	GRCh37
NC_000008.9:g.145700459C>T	NCBI36
NG_015828.1:g.5187C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394955.3:c.-37C>T MANE Select	ENSP00000378408.2:n.-37C>T
ENST00000354769.8:n.129C>T
ENST00000394955.2:c.-37C>T	ENSP00000378408.2:n.-37C>T
ENST00000527165.5:n.532C>T
ENST00000527961.1:n.48C>T
ENST00000528431.5:c.-4-33C>T	ENSP00000433586.1:n.-4-33C>T
ENST00000531330.5:n.129C>T
ENST00000534702.5:n.129C>T
NM_005309.2:c.-37C>T	NP_005300.1:n.-37C>T
XM_011516993.1:c.-4-33C>T	XP_011515295.1:n.-4-33C>T
XR_928744.1:n.114+697G>A
XM_011516993.2:c.-4-33C>T	XP_011515295.1:n.-4-33C>T
XR_001746139.2:n.103+1104G>A
XR_001746140.2:n.253+697G>A
NM_005309.3:c.-37C>T MANE Select	NP_005300.1:n.-37C>T
NM_001382664.1:c.-4-33C>T	NP_001369593.1:n.-4-33C>T
NM_001382665.1:c.-37C>T	NP_001369594.1:n.-37C>T
NR_168476.1:n.129C>T
NR_168477.1:n.129C>T