Canonical Allele Identifier: CA2689126994

Gene: GPT

Linked Data

• gnomAD v4: 8-144504269-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144504269T>C , CM000670.2:g.144504269T>C	GRCh38
NC_000008.10:g.145729652T>C , CM000670.1:g.145729652T>C	GRCh37
NC_000008.9:g.145700460T>C	NCBI36
NG_015828.1:g.5188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394955.3:c.-36T>C MANE Select	ENSP00000378408.2:n.-36T>C
ENST00000354769.8:n.130T>C
ENST00000394955.2:c.-36T>C	ENSP00000378408.2:n.-36T>C
ENST00000527165.5:n.533T>C
ENST00000527961.1:n.49T>C
ENST00000528431.5:c.-4-32T>C	ENSP00000433586.1:n.-4-32T>C
ENST00000531330.5:n.130T>C
ENST00000534702.5:n.130T>C
NM_005309.2:c.-36T>C	NP_005300.1:n.-36T>C
XM_011516993.1:c.-4-32T>C	XP_011515295.1:n.-4-32T>C
XR_928744.1:n.114+696A>G
XM_011516993.2:c.-4-32T>C	XP_011515295.1:n.-4-32T>C
XR_001746139.2:n.103+1103A>G
XR_001746140.2:n.253+696A>G
NM_005309.3:c.-36T>C MANE Select	NP_005300.1:n.-36T>C
NM_001382664.1:c.-4-32T>C	NP_001369593.1:n.-4-32T>C
NM_001382665.1:c.-36T>C	NP_001369594.1:n.-36T>C
NR_168476.1:n.130T>C
NR_168477.1:n.130T>C