Canonical Allele Identifier: CA4736307

Gene: POMK

Linked Data

• dbSNP Id: rs770070626
• ExAC: 8:42977548 A / T
• gnomAD v2: 8-42977548-A-T
• gnomAD v4: 8-43122405-A-T
• MyVariant Identifiers: chr8:g.42977548A>T (hg19) ; chr8:g.43122405A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122405A>T , CM000670.2:g.43122405A>T	GRCh38
NC_000008.10:g.42977548A>T , CM000670.1:g.42977548A>T	GRCh37
NC_000008.9:g.43096705A>T	NCBI36
NG_033235.1:g.33900A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.581A>T MANE Select	ENSP00000331258.5:p.His194Leu
ENST00000614426.2:c.*377A>T	ENSP00000478821.2:n.*377A>T
ENST00000674646.1:c.299A>T	ENSP00000501703.1:p.His100Leu
ENST00000674676.1:c.299A>T	ENSP00000502544.1:p.His100Leu
ENST00000674782.1:c.*501A>T	ENSP00000501683.1:n.*501A>T
ENST00000674937.1:c.539A>T	ENSP00000501823.1:p.His180Leu
ENST00000675322.1:c.299A>T	ENSP00000502235.1:p.His100Leu
ENST00000675675.1:c.299A>T	ENSP00000501793.1:p.His100Leu
ENST00000676178.1:c.*366A>T	ENSP00000502007.1:n.*366A>T
ENST00000676193.1:c.581A>T	ENSP00000502774.1:p.His194Leu
ENST00000331373.9:c.581A>T	ENSP00000331258.5:p.His194Leu
ENST00000614426.1:c.581A>T	ENSP00000478821.1:p.His194Leu
NM_001277971.1:c.581A>T	NP_001264900.1:p.His194Leu
NM_032237.4:c.581A>T	NP_115613.1:p.His194Leu
XM_011544668.1:c.581A>T	XP_011542970.1:p.His194Leu
XM_011544669.1:c.581A>T	XP_011542971.1:p.His194Leu
NM_032237.5:c.581A>T MANE Select	NP_115613.1:p.His194Leu
NM_001277971.2:c.581A>T	NP_001264900.1:p.His194Leu