Canonical Allele Identifier: CA2689126976

Gene: GPT

Linked Data

• gnomAD v4: 8-144504257-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144504257G>T , CM000670.2:g.144504257G>T	GRCh38
NC_000008.10:g.145729640G>T , CM000670.1:g.145729640G>T	GRCh37
NC_000008.9:g.145700448G>T	NCBI36
NG_015828.1:g.5176G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394955.3:c.-48G>T MANE Select	ENSP00000378408.2:n.-48G>T
ENST00000354769.8:n.118G>T
ENST00000394955.2:c.-48G>T	ENSP00000378408.2:n.-48G>T
ENST00000527165.5:n.521G>T
ENST00000527961.1:n.37G>T
ENST00000528431.5:c.-4-44G>T	ENSP00000433586.1:n.-4-44G>T
ENST00000531330.5:n.118G>T
ENST00000534702.5:n.118G>T
NM_005309.2:c.-48G>T	NP_005300.1:n.-48G>T
XM_011516993.1:c.-4-44G>T	XP_011515295.1:n.-4-44G>T
XR_928744.1:n.114+708C>A
XM_011516993.2:c.-4-44G>T	XP_011515295.1:n.-4-44G>T
XR_001746139.2:n.103+1115C>A
XR_001746140.2:n.253+708C>A
NM_005309.3:c.-48G>T MANE Select	NP_005300.1:n.-48G>T
NM_001382664.1:c.-4-44G>T	NP_001369593.1:n.-4-44G>T
NM_001382665.1:c.-48G>T	NP_001369594.1:n.-48G>T
NR_168476.1:n.118G>T
NR_168477.1:n.118G>T