Canonical Allele Identifier: CA2636376233

Gene: PEMT

Linked Data

• gnomAD v4: 17-17506184-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506184C>G , CM000679.2:g.17506184C>G	GRCh38
NC_000017.10:g.17409498C>G , CM000679.1:g.17409498C>G	GRCh37
NC_000017.9:g.17350223C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.653+43G>C MANE Select	ENSP00000255389.5:n.653+43G>C
ENST00000255389.9:c.653+43G>C	ENSP00000255389.5:n.653+43G>C
ENST00000395781.6:c.684+43G>C	ENSP00000379127.2:n.684+43G>C
ENST00000395782.5:c.542+43G>C	ENSP00000379128.1:n.542+43G>C
ENST00000395783.5:c.542+43G>C	ENSP00000379129.1:n.542+43G>C
ENST00000435340.6:c.621+43G>C	ENSP00000391288.2:n.621+43G>C
ENST00000477595.5:n.147+43G>C
ENST00000484838.6:n.517+43G>C
ENST00000490392.5:n.387+43G>C
ENST00000580147.5:c.*151+43G>C	ENSP00000463112.1:n.*151+43G>C
ENST00000582268.5:n.97+43G>C
NM_001267551.1:c.587+43G>C	NP_001254480.1:n.587+43G>C
NM_001267552.1:c.684+43G>C	NP_001254481.1:n.684+43G>C
NM_007169.2:c.542+43G>C	NP_009100.2:n.542+43G>C
NM_148172.2:c.653+43G>C	NP_680477.1:n.653+43G>C
NM_148173.1:c.542+43G>C	NP_680478.1:n.542+43G>C
XM_006721418.2:c.590+43G>C	XP_006721481.2:n.590+43G>C
XM_006721418.4:c.590+43G>C	XP_006721481.2:n.590+43G>C
XM_017024016.1:c.320+43G>C	XP_016879505.1:n.320+43G>C
XM_024450532.1:c.542+43G>C	XP_024306300.1:n.542+43G>C
NM_148172.3:c.653+43G>C MANE Select	NP_680477.1:n.653+43G>C
NM_001267551.2:c.587+43G>C	NP_001254480.1:n.587+43G>C
NM_001267552.2:c.684+43G>C	NP_001254481.1:n.684+43G>C
NM_007169.3:c.542+43G>C	NP_009100.2:n.542+43G>C
NM_148173.2:c.542+43G>C	NP_680478.1:n.542+43G>C