Canonical Allele Identifier: CA371123080

Gene: POMK

Linked Data

• ClinVar Variation Id: 2142272
• ClinVar RCV Id: RCV003058981
• gnomAD v4: 8-43122794-G-T
• MyVariant Identifiers: chr8:g.42977937G>T (hg19) ; chr8:g.43122794G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122794G>T , CM000670.2:g.43122794G>T	GRCh38
NC_000008.10:g.42977937G>T , CM000670.1:g.42977937G>T	GRCh37
NC_000008.9:g.43097094G>T	NCBI36
NG_033235.1:g.34289G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.970G>T MANE Select	ENSP00000331258.5:p.Ala324Ser
ENST00000614426.2:c.*766G>T	ENSP00000478821.2:n.*766G>T
ENST00000674646.1:c.688G>T	ENSP00000501703.1:p.Ala230Ser
ENST00000674676.1:c.688G>T	ENSP00000502544.1:p.Ala230Ser
ENST00000674782.1:c.*890G>T	ENSP00000501683.1:n.*890G>T
ENST00000674937.1:c.928G>T	ENSP00000501823.1:p.Ala310Ser
ENST00000675322.1:c.688G>T	ENSP00000502235.1:p.Ala230Ser
ENST00000675675.1:c.688G>T	ENSP00000501793.1:p.Ala230Ser
ENST00000676178.1:c.*755G>T	ENSP00000502007.1:n.*755G>T
ENST00000676193.1:c.970G>T	ENSP00000502774.1:p.Ala324Ser
ENST00000331373.9:c.970G>T	ENSP00000331258.5:p.Ala324Ser
ENST00000614426.1:c.970G>T	ENSP00000478821.1:p.Ala324Ser
NM_001277971.1:c.970G>T	NP_001264900.1:p.Ala324Ser
NM_032237.4:c.970G>T	NP_115613.1:p.Ala324Ser
XM_011544668.1:c.970G>T	XP_011542970.1:p.Ala324Ser
XM_011544669.1:c.970G>T	XP_011542971.1:p.Ala324Ser
NM_032237.5:c.970G>T MANE Select	NP_115613.1:p.Ala324Ser
NM_001277971.2:c.970G>T	NP_001264900.1:p.Ala324Ser