Canonical Allele Identifier: CA981956007

Gene: PEMT

Linked Data

• dbSNP Id: rs1912064206
• gnomAD v3: 17-17583074-A-C
• gnomAD v4: 17-17583074-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17583074A>C , CM000679.2:g.17583074A>C	GRCh38
NC_000017.10:g.17486388A>C , CM000679.1:g.17486388A>C	GRCh37
NC_000017.9:g.17427113A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255389.10:c.97-6047T>G MANE Select	ENSP00000255389.5:n.97-6047T>G
ENST00000255389.9:c.97-6047T>G	ENSP00000255389.5:n.97-6047T>G
ENST00000395781.6:c.97-6047T>G	ENSP00000379127.2:n.97-6047T>G
ENST00000421096.5:n.121-6047T>G
ENST00000435340.6:c.31-6047T>G	ENSP00000391288.2:n.31-6047T>G
ENST00000461404.1:c.97-6047T>G	ENSP00000463713.1:n.97-6047T>G
ENST00000472446.1:n.108-6047T>G
ENST00000580147.5:c.97-6047T>G	ENSP00000463112.1:n.97-6047T>G
NM_001267551.1:c.31-6047T>G	NP_001254480.1:n.31-6047T>G
NM_001267552.1:c.97-6047T>G	NP_001254481.1:n.97-6047T>G
NM_148172.2:c.97-6047T>G	NP_680477.1:n.97-6047T>G
XM_024450532.1:c.-15-6047T>G	XP_024306300.1:n.-15-6047T>G
NM_148172.3:c.97-6047T>G MANE Select	NP_680477.1:n.97-6047T>G
NM_001267551.2:c.31-6047T>G	NP_001254480.1:n.31-6047T>G
NM_001267552.2:c.97-6047T>G	NP_001254481.1:n.97-6047T>G