Canonical Allele Identifier: CA4736295

Gene: POMK

Linked Data

• dbSNP Id: rs763960071
• ExAC: 8:42977471 G / C
• gnomAD v2: 8-42977471-G-C
• MyVariant Identifiers: chr8:g.42977471G>C (hg19) ; chr8:g.43122328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122328G>C , CM000670.2:g.43122328G>C	GRCh38
NC_000008.10:g.42977471G>C , CM000670.1:g.42977471G>C	GRCh37
NC_000008.9:g.43096628G>C	NCBI36
NG_033235.1:g.33823G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.504G>C MANE Select	ENSP00000331258.5:p.Lys168Asn
ENST00000614426.2:c.*300G>C	ENSP00000478821.2:n.*300G>C
ENST00000674646.1:c.222G>C	ENSP00000501703.1:p.Lys74Asn
ENST00000674676.1:c.222G>C	ENSP00000502544.1:p.Lys74Asn
ENST00000674782.1:c.*424G>C	ENSP00000501683.1:n.*424G>C
ENST00000674937.1:c.462G>C	ENSP00000501823.1:p.Lys154Asn
ENST00000675322.1:c.222G>C	ENSP00000502235.1:p.Lys74Asn
ENST00000675675.1:c.222G>C	ENSP00000501793.1:p.Lys74Asn
ENST00000676178.1:c.*289G>C	ENSP00000502007.1:n.*289G>C
ENST00000676193.1:c.504G>C	ENSP00000502774.1:p.Lys168Asn
ENST00000331373.9:c.504G>C	ENSP00000331258.5:p.Lys168Asn
ENST00000614426.1:c.504G>C	ENSP00000478821.1:p.Lys168Asn
NM_001277971.1:c.504G>C	NP_001264900.1:p.Lys168Asn
NM_032237.4:c.504G>C	NP_115613.1:p.Lys168Asn
XM_011544668.1:c.504G>C	XP_011542970.1:p.Lys168Asn
XM_011544669.1:c.504G>C	XP_011542971.1:p.Lys168Asn
NM_032237.5:c.504G>C MANE Select	NP_115613.1:p.Lys168Asn
NM_001277971.2:c.504G>C	NP_001264900.1:p.Lys168Asn