Canonical Allele Identifier: CA176080001

Gene: POMK

Linked Data

• ClinVar Variation Id: 2936124
• ClinVar RCV Id: RCV003796410
• dbSNP Id: rs112727660
• gnomAD v4: 8-43122377-T-C
• MyVariant Identifiers: chr8:g.42977520T>C (hg19) ; chr8:g.43122377T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122377T>C , CM000670.2:g.43122377T>C	GRCh38
NC_000008.10:g.42977520T>C , CM000670.1:g.42977520T>C	GRCh37
NC_000008.9:g.43096677T>C	NCBI36
NG_033235.1:g.33872T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.553T>C MANE Select	ENSP00000331258.5:p.Tyr185His
ENST00000614426.2:c.*349T>C	ENSP00000478821.2:n.*349T>C
ENST00000674646.1:c.271T>C	ENSP00000501703.1:p.Tyr91His
ENST00000674676.1:c.271T>C	ENSP00000502544.1:p.Tyr91His
ENST00000674782.1:c.*473T>C	ENSP00000501683.1:n.*473T>C
ENST00000674937.1:c.511T>C	ENSP00000501823.1:p.Tyr171His
ENST00000675322.1:c.271T>C	ENSP00000502235.1:p.Tyr91His
ENST00000675675.1:c.271T>C	ENSP00000501793.1:p.Tyr91His
ENST00000676178.1:c.*338T>C	ENSP00000502007.1:n.*338T>C
ENST00000676193.1:c.553T>C	ENSP00000502774.1:p.Tyr185His
ENST00000331373.9:c.553T>C	ENSP00000331258.5:p.Tyr185His
ENST00000614426.1:c.553T>C	ENSP00000478821.1:p.Tyr185His
NM_001277971.1:c.553T>C	NP_001264900.1:p.Tyr185His
NM_032237.4:c.553T>C	NP_115613.1:p.Tyr185His
XM_011544668.1:c.553T>C	XP_011542970.1:p.Tyr185His
XM_011544669.1:c.553T>C	XP_011542971.1:p.Tyr185His
NM_032237.5:c.553T>C MANE Select	NP_115613.1:p.Tyr185His
NM_001277971.2:c.553T>C	NP_001264900.1:p.Tyr185His