Canonical Allele Identifier: CA1132498

Gene: PMVK

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154926423C>T , CM000663.2:g.154926423C>T	GRCh38
NC_000001.10:g.154898899C>T , CM000663.1:g.154898899C>T	GRCh37
NC_000001.9:g.153165523C>T	NCBI36
NG_053028.1:g.21228G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006556.4:c.373G>A MANE Select	NP_006547.1:p.Val125Met
ENST00000368467.4:c.373G>A MANE Select	ENSP00000357452.3:p.Val125Met
NM_001323011.2:c.331G>A	NP_001309940.1:p.Val111Met
NM_001323011.3:c.331G>A	NP_001309940.1:p.Val111Met
NM_001323012.2:c.148G>A	NP_001309941.1:p.Val50Met
NM_001323012.3:c.148G>A	NP_001309941.1:p.Val50Met
NM_001348696.1:c.148G>A	NP_001335625.1:p.Val50Met
NM_001348696.2:c.148G>A	NP_001335625.1:p.Val50Met
NM_006556.3:c.373G>A	NP_006547.1:p.Val125Met
ENST00000368467.3:c.373G>A	ENSP00000357452.3:p.Val125Met
XM_011509084.1:c.613G>A	XP_011507386.1:p.Val205Met
XM_011509085.1:c.331G>A	XP_011507387.1:p.Val111Met