Canonical Allele Identifier: CA460787239

Gene: POMK

Linked Data

• dbSNP Id: rs1811939517
• MyVariant Identifiers: chr8:g.42977588C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122445C>T , CM000670.2:g.43122445C>T	GRCh38
NC_000008.10:g.42977588C>T , CM000670.1:g.42977588C>T	GRCh37
NC_000008.9:g.43096745C>T	NCBI36
NG_033235.1:g.33940C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.621C>T MANE Select	ENSP00000331258.5:p.Asp207=
ENST00000614426.2:c.*417C>T	ENSP00000478821.2:n.*417C>T
ENST00000674646.1:c.339C>T	ENSP00000501703.1:p.Asp113=
ENST00000674676.1:c.339C>T	ENSP00000502544.1:p.Asp113=
ENST00000674782.1:c.*541C>T	ENSP00000501683.1:n.*541C>T
ENST00000674937.1:c.579C>T	ENSP00000501823.1:p.Asp193=
ENST00000675322.1:c.339C>T	ENSP00000502235.1:p.Asp113=
ENST00000675675.1:c.339C>T	ENSP00000501793.1:p.Asp113=
ENST00000676178.1:c.*406C>T	ENSP00000502007.1:n.*406C>T
ENST00000676193.1:c.621C>T	ENSP00000502774.1:p.Asp207=
ENST00000331373.9:c.621C>T	ENSP00000331258.5:p.Asp207=
ENST00000614426.1:c.621C>T	ENSP00000478821.1:p.Asp207=
NM_001277971.1:c.621C>T	NP_001264900.1:p.Asp207=
NM_032237.4:c.621C>T	NP_115613.1:p.Asp207=
XM_011544668.1:c.621C>T	XP_011542970.1:p.Asp207=
XM_011544669.1:c.621C>T	XP_011542971.1:p.Asp207=
NM_032237.5:c.621C>T MANE Select	NP_115613.1:p.Asp207=
NM_001277971.2:c.621C>T	NP_001264900.1:p.Asp207=