Canonical Allele Identifier: CA4736342

Gene: POMK

Linked Data

• ClinVar Variation Id: 436701
• ClinVar RCV Id: RCV000502390 ; RCV000550210 ; RCV001697007
• dbSNP Id: rs148949414
• ExAC: 8:42977681 C / T
• gnomAD v2: 8-42977681-C-T
• gnomAD v3: 8-43122538-C-T
• gnomAD v4: 8-43122538-C-T
• MyVariant Identifiers: chr8:g.42977681C>T (hg19) ; chr8:g.43122538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122538C>T , CM000670.2:g.43122538C>T	GRCh38
NC_000008.10:g.42977681C>T , CM000670.1:g.42977681C>T	GRCh37
NC_000008.9:g.43096838C>T	NCBI36
NG_033235.1:g.34033C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000331373.10:c.714C>T MANE Select	ENSP00000331258.5:p.Ser238=
ENST00000614426.2:c.*510C>T	ENSP00000478821.2:n.*510C>T
ENST00000674646.1:c.432C>T	ENSP00000501703.1:p.Ser144=
ENST00000674676.1:c.432C>T	ENSP00000502544.1:p.Ser144=
ENST00000674782.1:c.*634C>T	ENSP00000501683.1:n.*634C>T
ENST00000674937.1:c.672C>T	ENSP00000501823.1:p.Ser224=
ENST00000675322.1:c.432C>T	ENSP00000502235.1:p.Ser144=
ENST00000675675.1:c.432C>T	ENSP00000501793.1:p.Ser144=
ENST00000676178.1:c.*499C>T	ENSP00000502007.1:n.*499C>T
ENST00000676193.1:c.714C>T	ENSP00000502774.1:p.Ser238=
ENST00000331373.9:c.714C>T	ENSP00000331258.5:p.Ser238=
ENST00000614426.1:c.714C>T	ENSP00000478821.1:p.Ser238=
NM_001277971.1:c.714C>T	NP_001264900.1:p.Ser238=
NM_032237.4:c.714C>T	NP_115613.1:p.Ser238=
XM_011544668.1:c.714C>T	XP_011542970.1:p.Ser238=
XM_011544669.1:c.714C>T	XP_011542971.1:p.Ser238=
NM_032237.5:c.714C>T MANE Select	NP_115613.1:p.Ser238=
NM_001277971.2:c.714C>T	NP_001264900.1:p.Ser238=