Canonical Allele Identifier: CA371122243

Gene: POMK

Linked Data

• gnomAD v4: 8-43122414-T-C
• MyVariant Identifiers: chr8:g.42977557T>C (hg19) ; chr8:g.43122414T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122414T>C , CM000670.2:g.43122414T>C	GRCh38
NC_000008.10:g.42977557T>C , CM000670.1:g.42977557T>C	GRCh37
NC_000008.9:g.43096714T>C	NCBI36
NG_033235.1:g.33909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.590T>C MANE Select	ENSP00000331258.5:p.Val197Ala
ENST00000614426.2:c.*386T>C	ENSP00000478821.2:n.*386T>C
ENST00000674646.1:c.308T>C	ENSP00000501703.1:p.Val103Ala
ENST00000674676.1:c.308T>C	ENSP00000502544.1:p.Val103Ala
ENST00000674782.1:c.*510T>C	ENSP00000501683.1:n.*510T>C
ENST00000674937.1:c.548T>C	ENSP00000501823.1:p.Val183Ala
ENST00000675322.1:c.308T>C	ENSP00000502235.1:p.Val103Ala
ENST00000675675.1:c.308T>C	ENSP00000501793.1:p.Val103Ala
ENST00000676178.1:c.*375T>C	ENSP00000502007.1:n.*375T>C
ENST00000676193.1:c.590T>C	ENSP00000502774.1:p.Val197Ala
ENST00000331373.9:c.590T>C	ENSP00000331258.5:p.Val197Ala
ENST00000614426.1:c.590T>C	ENSP00000478821.1:p.Val197Ala
NM_001277971.1:c.590T>C	NP_001264900.1:p.Val197Ala
NM_032237.4:c.590T>C	NP_115613.1:p.Val197Ala
XM_011544668.1:c.590T>C	XP_011542970.1:p.Val197Ala
XM_011544669.1:c.590T>C	XP_011542971.1:p.Val197Ala
NM_032237.5:c.590T>C MANE Select	NP_115613.1:p.Val197Ala
NM_001277971.2:c.590T>C	NP_001264900.1:p.Val197Ala