Canonical Allele Identifier: CA460787323
Gene: POMK HGNC NCBI

Linked Data

ClinVar Variation Id: 1934707
ClinVar RCV Id: RCV002638794
MyVariant Identifiers: chr8:g.42977789C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122646C>T , CM000670.2:g.43122646C>T GRCh38
NC_000008.10:g.42977789C>T , CM000670.1:g.42977789C>T GRCh37
NC_000008.9:g.43096946C>T NCBI36
NG_033235.1:g.34141C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331373.10:c.822C>T MANE Select ENSP00000331258.5:p.Pro274=
ENST00000614426.2:c.*618C>T ENSP00000478821.2:n.*618C>T
ENST00000674646.1:c.540C>T ENSP00000501703.1:p.Pro180=
ENST00000674676.1:c.540C>T ENSP00000502544.1:p.Pro180=
ENST00000674782.1:c.*742C>T ENSP00000501683.1:n.*742C>T
ENST00000674937.1:c.780C>T ENSP00000501823.1:p.Pro260=
ENST00000675322.1:c.540C>T ENSP00000502235.1:p.Pro180=
ENST00000675675.1:c.540C>T ENSP00000501793.1:p.Pro180=
ENST00000676178.1:c.*607C>T ENSP00000502007.1:n.*607C>T
ENST00000676193.1:c.822C>T ENSP00000502774.1:p.Pro274=
ENST00000331373.9:c.822C>T ENSP00000331258.5:p.Pro274=
ENST00000614426.1:c.822C>T ENSP00000478821.1:p.Pro274=
NM_001277971.1:c.822C>T NP_001264900.1:p.Pro274=
NM_032237.4:c.822C>T NP_115613.1:p.Pro274=
XM_011544668.1:c.822C>T XP_011542970.1:p.Pro274=
XM_011544669.1:c.822C>T XP_011542971.1:p.Pro274=
NM_032237.5:c.822C>T MANE Select NP_115613.1:p.Pro274=
NM_001277971.2:c.822C>T NP_001264900.1:p.Pro274=