Canonical Allele Identifier: CA398543059

Gene: PEMT

Linked Data

• dbSNP Id: rs1385150449
• gnomAD v2: 17-17409566-A-G
• gnomAD v4: 17-17506252-A-G
• MyVariant Identifiers: chr17:g.17409566A>G (hg19) ; chr17:g.17506252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506252A>G , CM000679.2:g.17506252A>G	GRCh38
NC_000017.10:g.17409566A>G , CM000679.1:g.17409566A>G	GRCh37
NC_000017.9:g.17350291A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.628T>C MANE Select	ENSP00000255389.5:p.Tyr210His
ENST00000255389.9:c.628T>C	ENSP00000255389.5:p.Tyr210His
ENST00000395781.6:c.659T>C	ENSP00000379127.2:p.Leu220Pro
ENST00000395782.5:c.517T>C	ENSP00000379128.1:p.Tyr173His
ENST00000395783.5:c.517T>C	ENSP00000379129.1:p.Tyr173His
ENST00000435340.6:c.596T>C	ENSP00000391288.2:p.Leu199Pro
ENST00000477595.5:n.122T>C
ENST00000484838.6:n.492T>C
ENST00000490392.5:n.362T>C
ENST00000580147.5:c.*126T>C	ENSP00000463112.1:n.*126T>C
ENST00000582268.5:n.72T>C
NM_001267551.1:c.562T>C	NP_001254480.1:p.Tyr188His
NM_001267552.1:c.659T>C	NP_001254481.1:p.Leu220Pro
NM_007169.2:c.517T>C	NP_009100.2:p.Tyr173His
NM_148172.2:c.628T>C	NP_680477.1:p.Tyr210His
NM_148173.1:c.517T>C	NP_680478.1:p.Tyr173His
XM_006721418.2:c.565T>C	XP_006721481.2:p.Tyr189His
XM_006721418.4:c.565T>C	XP_006721481.2:p.Tyr189His
XM_017024016.1:c.295T>C	XP_016879505.1:p.Tyr99His
XM_024450532.1:c.517T>C	XP_024306300.1:p.Tyr173His
NM_148172.3:c.628T>C MANE Select	NP_680477.1:p.Tyr210His
NM_001267551.2:c.562T>C	NP_001254480.1:p.Tyr188His
NM_001267552.2:c.659T>C	NP_001254481.1:p.Leu220Pro
NM_007169.3:c.517T>C	NP_009100.2:p.Tyr173His
NM_148173.2:c.517T>C	NP_680478.1:p.Tyr173His