Canonical Allele Identifier: CA288369047

Gene: PEMT

Linked Data

• dbSNP Id: rs12325817
• gnomAD v3: 17-17583205-C-A
• gnomAD v4: 17-17583205-C-A
• MyVariant Identifiers: chr17:g.17486519C>A (hg19) ; chr17:g.17583205C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17583205C>A , CM000679.2:g.17583205C>A	GRCh38
NC_000017.10:g.17486519C>A , CM000679.1:g.17486519C>A	GRCh37
NC_000017.9:g.17427244C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.97-6178G>T MANE Select	ENSP00000255389.5:n.97-6178G>T
ENST00000255389.9:c.97-6178G>T	ENSP00000255389.5:n.97-6178G>T
ENST00000395781.6:c.97-6178G>T	ENSP00000379127.2:n.97-6178G>T
ENST00000421096.5:n.121-6178G>T
ENST00000435340.6:c.31-6178G>T	ENSP00000391288.2:n.31-6178G>T
ENST00000461404.1:c.97-6178G>T	ENSP00000463713.1:n.97-6178G>T
ENST00000472446.1:n.108-6178G>T
ENST00000580147.5:c.97-6178G>T	ENSP00000463112.1:n.97-6178G>T
NM_001267551.1:c.31-6178G>T	NP_001254480.1:n.31-6178G>T
NM_001267552.1:c.97-6178G>T	NP_001254481.1:n.97-6178G>T
NM_148172.2:c.97-6178G>T	NP_680477.1:n.97-6178G>T
XM_024450532.1:c.-15-6178G>T	XP_024306300.1:n.-15-6178G>T
NM_148172.3:c.97-6178G>T MANE Select	NP_680477.1:n.97-6178G>T
NM_001267551.2:c.31-6178G>T	NP_001254480.1:n.31-6178G>T
NM_001267552.2:c.97-6178G>T	NP_001254481.1:n.97-6178G>T