Canonical Allele Identifier: CA981956040

Gene: PEMT

Linked Data

• dbSNP Id: rs1912069704
• gnomAD v3: 17-17583166-C-CAGG
• gnomAD v4: 17-17583166-C-CAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17583169_17583171dup , CM000679.2:g.17583169_17583171dup	GRCh38
NC_000017.10:g.17486483_17486485dup , CM000679.1:g.17486483_17486485dup	GRCh37
NC_000017.9:g.17427208_17427210dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.97-6142_97-6140dup MANE Select	ENSP00000255389.5:n.97-6142_97-6140dup
ENST00000255389.9:c.97-6142_97-6140dup	ENSP00000255389.5:n.97-6142_97-6140dup
ENST00000395781.6:c.97-6142_97-6140dup	ENSP00000379127.2:n.97-6142_97-6140dup
ENST00000421096.5:n.121-6142_121-6140dup
ENST00000435340.6:c.31-6142_31-6140dup	ENSP00000391288.2:n.31-6142_31-6140dup
ENST00000461404.1:c.97-6142_97-6140dup	ENSP00000463713.1:n.97-6142_97-6140dup
ENST00000472446.1:n.108-6142_108-6140dup
ENST00000580147.5:c.97-6142_97-6140dup	ENSP00000463112.1:n.97-6142_97-6140dup
NM_001267551.1:c.31-6142_31-6140dup	NP_001254480.1:n.31-6142_31-6140dup
NM_001267552.1:c.97-6142_97-6140dup	NP_001254481.1:n.97-6142_97-6140dup
NM_148172.2:c.97-6142_97-6140dup	NP_680477.1:n.97-6142_97-6140dup
XM_024450532.1:c.-15-6142_-15-6140dup	XP_024306300.1:n.-15-6142_-15-6140dup
NM_148172.3:c.97-6142_97-6140dup MANE Select	NP_680477.1:n.97-6142_97-6140dup
NM_001267551.2:c.31-6142_31-6140dup	NP_001254480.1:n.31-6142_31-6140dup
NM_001267552.2:c.97-6142_97-6140dup	NP_001254481.1:n.97-6142_97-6140dup