Canonical Allele Identifier: CA14432179
Gene: PEMT HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.17582270G>A
GRCh37 chr17:g.17485584G>A
gnomAD v2:
17:17485584 G / A
gnomAD v3:
17:17582270 G / A
gnomAD v4:
chr17-17582270-G-A
Joint Max Group AF 0.0930375 (SAS)
Genomes Max Group AF 0.08377955 (SAS)
Exomes Max Group AF 0.09420633 (SAS)
dbSNP:
2278952
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17582270G>A , CM000679.2:g.17582270G>A GRCh38
NC_000017.10:g.17485584G>A , CM000679.1:g.17485584G>A GRCh37
NC_000017.9:g.17426309G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000255389.10:c.97-5243C>T MANE Select ENSP00000255389.5:n.97-5243C>T
ENST00000255389.9:c.97-5243C>T ENSP00000255389.5:n.97-5243C>T
ENST00000395781.6:c.97-5243C>T ENSP00000379127.2:n.97-5243C>T
ENST00000395783.5:c.-19C>T ENSP00000379129.1:n.-19C>T
ENST00000421096.5:n.121-5243C>T
ENST00000435340.6:c.31-5243C>T ENSP00000391288.2:n.31-5243C>T
ENST00000461404.1:c.97-5243C>T ENSP00000463713.1:n.97-5243C>T
ENST00000472446.1:n.108-5243C>T
ENST00000580147.5:c.97-5243C>T ENSP00000463112.1:n.97-5243C>T
NM_001267551.1:c.31-5243C>T NP_001254480.1:n.31-5243C>T
NM_001267552.1:c.97-5243C>T NP_001254481.1:n.97-5243C>T
NM_007169.2:c.-19C>T NP_009100.2:n.-19C>T
NM_148172.2:c.97-5243C>T NP_680477.1:n.97-5243C>T
XM_024450532.1:c.-15-5243C>T XP_024306300.1:n.-15-5243C>T
NM_148172.3:c.97-5243C>T MANE Select NP_680477.1:n.97-5243C>T
NM_001267551.2:c.31-5243C>T NP_001254480.1:n.31-5243C>T
NM_001267552.2:c.97-5243C>T NP_001254481.1:n.97-5243C>T
NM_007169.3:c.-19C>T NP_009100.2:n.-19C>T
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