Canonical Allele Identifier: CA371123368

Gene: POMK

Linked Data

• dbSNP Id: rs1161082343
• gnomAD v2: 8-42978003-G-A
• gnomAD v4: 8-43122860-G-A
• MyVariant Identifiers: chr8:g.42978003G>A (hg19) ; chr8:g.43122860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122860G>A , CM000670.2:g.43122860G>A	GRCh38
NC_000008.10:g.42978003G>A , CM000670.1:g.42978003G>A	GRCh37
NC_000008.9:g.43097160G>A	NCBI36
NG_033235.1:g.34355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.1036G>A MANE Select	ENSP00000331258.5:p.Ala346Thr
ENST00000614426.2:c.*832G>A	ENSP00000478821.2:n.*832G>A
ENST00000674646.1:c.754G>A	ENSP00000501703.1:p.Ala252Thr
ENST00000674676.1:c.754G>A	ENSP00000502544.1:p.Ala252Thr
ENST00000674782.1:c.*956G>A	ENSP00000501683.1:n.*956G>A
ENST00000674937.1:c.994G>A	ENSP00000501823.1:p.Ala332Thr
ENST00000675322.1:c.754G>A	ENSP00000502235.1:p.Ala252Thr
ENST00000675675.1:c.754G>A	ENSP00000501793.1:p.Ala252Thr
ENST00000676178.1:c.*821G>A	ENSP00000502007.1:n.*821G>A
ENST00000676193.1:c.1036G>A	ENSP00000502774.1:p.Ala346Thr
ENST00000331373.9:c.1036G>A	ENSP00000331258.5:p.Ala346Thr
ENST00000614426.1:c.1036G>A	ENSP00000478821.1:p.Ala346Thr
NM_001277971.1:c.1036G>A	NP_001264900.1:p.Ala346Thr
NM_032237.4:c.1036G>A	NP_115613.1:p.Ala346Thr
XM_011544668.1:c.1036G>A	XP_011542970.1:p.Ala346Thr
XM_011544669.1:c.1036G>A	XP_011542971.1:p.Ala346Thr
NM_032237.5:c.1036G>A MANE Select	NP_115613.1:p.Ala346Thr
NM_001277971.2:c.1036G>A	NP_001264900.1:p.Ala346Thr