Canonical Allele Identifier: CA586164909

Gene: GPT

Linked Data

• dbSNP Id: rs1193601908
• gnomAD v2: 8-145729643-C-T
• gnomAD v4: 8-144504260-C-T
• MyVariant Identifiers: chr8:g.145729643C>T (hg19) ; chr8:g.144504260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144504260C>T , CM000670.2:g.144504260C>T	GRCh38
NC_000008.10:g.145729643C>T , CM000670.1:g.145729643C>T	GRCh37
NC_000008.9:g.145700451C>T	NCBI36
NG_015828.1:g.5179C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394955.3:c.-45C>T MANE Select	ENSP00000378408.2:n.-45C>T
ENST00000354769.8:n.121C>T
ENST00000394955.2:c.-45C>T	ENSP00000378408.2:n.-45C>T
ENST00000527165.5:n.524C>T
ENST00000527961.1:n.40C>T
ENST00000528431.5:c.-4-41C>T	ENSP00000433586.1:n.-4-41C>T
ENST00000531330.5:n.121C>T
ENST00000534702.5:n.121C>T
NM_005309.2:c.-45C>T	NP_005300.1:n.-45C>T
XM_011516993.1:c.-4-41C>T	XP_011515295.1:n.-4-41C>T
XR_928744.1:n.114+705G>A
XM_011516993.2:c.-4-41C>T	XP_011515295.1:n.-4-41C>T
XR_001746139.2:n.103+1112G>A
XR_001746140.2:n.253+705G>A
NM_005309.3:c.-45C>T MANE Select	NP_005300.1:n.-45C>T
NM_001382664.1:c.-4-41C>T	NP_001369593.1:n.-4-41C>T
NM_001382665.1:c.-45C>T	NP_001369594.1:n.-45C>T
NR_168476.1:n.121C>T
NR_168477.1:n.121C>T