Canonical Allele Identifier: CA4736402

Gene: POMK

Linked Data

• dbSNP Id: rs755062802
• ExAC: 8:42978023 A / C
• gnomAD v2: 8-42978023-A-C
• gnomAD v4: 8-43122880-A-C
• MyVariant Identifiers: chr8:g.42978023A>C (hg19) ; chr8:g.43122880A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122880A>C , CM000670.2:g.43122880A>C	GRCh38
NC_000008.10:g.42978023A>C , CM000670.1:g.42978023A>C	GRCh37
NC_000008.9:g.43097180A>C	NCBI36
NG_033235.1:g.34375A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.*3A>C MANE Select	ENSP00000331258.5:n.*3A>C
ENST00000614426.2:c.*852A>C	ENSP00000478821.2:n.*852A>C
ENST00000674646.1:c.774A>C	ENSP00000501703.1:n.774A>C
ENST00000674676.1:c.774A>C	ENSP00000502544.1:n.774A>C
ENST00000674782.1:c.*976A>C	ENSP00000501683.1:n.*976A>C
ENST00000674937.1:c.*3A>C	ENSP00000501823.1:n.*3A>C
ENST00000675322.1:c.774A>C	ENSP00000502235.1:n.774A>C
ENST00000675675.1:c.774A>C	ENSP00000501793.1:n.774A>C
ENST00000676178.1:c.*841A>C	ENSP00000502007.1:n.*841A>C
ENST00000676193.1:c.*3A>C	ENSP00000502774.1:n.*3A>C
ENST00000331373.9:c.*3A>C	ENSP00000331258.5:n.*3A>C
ENST00000614426.1:c.*3A>C	ENSP00000478821.1:n.*3A>C
NM_001277971.1:c.*3A>C	NP_001264900.1:n.*3A>C
NM_032237.4:c.*3A>C	NP_115613.1:n.*3A>C
XM_011544668.1:c.*3A>C	XP_011542970.1:n.*3A>C
XM_011544669.1:c.*3A>C	XP_011542971.1:n.*3A>C
NM_032237.5:c.*3A>C MANE Select	NP_115613.1:n.*3A>C
NM_001277971.2:c.*3A>C	NP_001264900.1:n.*3A>C