Canonical Allele Identifier: CA4946371

Gene: GPT

Linked Data

• dbSNP Id: rs778945760
• ExAC: 8:145729646 G / A
• gnomAD v2: 8-145729646-G-A
• gnomAD v4: 8-144504263-G-A
• MyVariant Identifiers: chr8:g.145729646G>A (hg19) ; chr8:g.144504263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144504263G>A , CM000670.2:g.144504263G>A	GRCh38
NC_000008.10:g.145729646G>A , CM000670.1:g.145729646G>A	GRCh37
NC_000008.9:g.145700454G>A	NCBI36
NG_015828.1:g.5182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394955.3:c.-42G>A MANE Select	ENSP00000378408.2:n.-42G>A
ENST00000354769.8:n.124G>A
ENST00000394955.2:c.-42G>A	ENSP00000378408.2:n.-42G>A
ENST00000527165.5:n.527G>A
ENST00000527961.1:n.43G>A
ENST00000528431.5:c.-4-38G>A	ENSP00000433586.1:n.-4-38G>A
ENST00000531330.5:n.124G>A
ENST00000534702.5:n.124G>A
NM_005309.2:c.-42G>A	NP_005300.1:n.-42G>A
XM_011516993.1:c.-4-38G>A	XP_011515295.1:n.-4-38G>A
XR_928744.1:n.114+702C>T
XM_011516993.2:c.-4-38G>A	XP_011515295.1:n.-4-38G>A
XR_001746139.2:n.103+1109C>T
XR_001746140.2:n.253+702C>T
NM_005309.3:c.-42G>A MANE Select	NP_005300.1:n.-42G>A
NM_001382664.1:c.-4-38G>A	NP_001369593.1:n.-4-38G>A
NM_001382665.1:c.-42G>A	NP_001369594.1:n.-42G>A
NR_168476.1:n.124G>A
NR_168477.1:n.124G>A