Canonical Allele Identifier: CA2250574358

Gene: PEMT

Linked Data

• dbSNP Id: rs2278952
• gnomAD v4: 17-17582270-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17582270G>T , CM000679.2:g.17582270G>T	GRCh38
NC_000017.10:g.17485584G>T , CM000679.1:g.17485584G>T	GRCh37
NC_000017.9:g.17426309G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.97-5243C>A MANE Select	ENSP00000255389.5:n.97-5243C>A
ENST00000255389.9:c.97-5243C>A	ENSP00000255389.5:n.97-5243C>A
ENST00000395781.6:c.97-5243C>A	ENSP00000379127.2:n.97-5243C>A
ENST00000395783.5:c.-19C>A	ENSP00000379129.1:n.-19C>A
ENST00000421096.5:n.121-5243C>A
ENST00000435340.6:c.31-5243C>A	ENSP00000391288.2:n.31-5243C>A
ENST00000461404.1:c.97-5243C>A	ENSP00000463713.1:n.97-5243C>A
ENST00000472446.1:n.108-5243C>A
ENST00000580147.5:c.97-5243C>A	ENSP00000463112.1:n.97-5243C>A
NM_001267551.1:c.31-5243C>A	NP_001254480.1:n.31-5243C>A
NM_001267552.1:c.97-5243C>A	NP_001254481.1:n.97-5243C>A
NM_007169.2:c.-19C>A	NP_009100.2:n.-19C>A
NM_148172.2:c.97-5243C>A	NP_680477.1:n.97-5243C>A
XM_024450532.1:c.-15-5243C>A	XP_024306300.1:n.-15-5243C>A
NM_148172.3:c.97-5243C>A MANE Select	NP_680477.1:n.97-5243C>A
NM_001267551.2:c.31-5243C>A	NP_001254480.1:n.31-5243C>A
NM_001267552.2:c.97-5243C>A	NP_001254481.1:n.97-5243C>A
NM_007169.3:c.-19C>A	NP_009100.2:n.-19C>A