Canonical Allele Identifier: CA4736311
Gene: POMK HGNC NCBI

Linked Data

ClinVar Variation Id: 474194
dbSNP Id: rs374943200
gnomAD v2: 8-42977556-G-T
gnomAD v3: 8-43122413-G-T
gnomAD v4: 8-43122413-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122413G>T , CM000670.2:g.43122413G>T GRCh38
NC_000008.10:g.42977556G>T , CM000670.1:g.42977556G>T GRCh37
NC_000008.9:g.43096713G>T NCBI36
NG_033235.1:g.33908G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331373.10:c.589G>T MANE Select ENSP00000331258.5:p.Val197Leu
ENST00000614426.2:c.*385G>T ENSP00000478821.2:n.*385G>T
ENST00000674646.1:c.307G>T ENSP00000501703.1:p.Val103Leu
ENST00000674676.1:c.307G>T ENSP00000502544.1:p.Val103Leu
ENST00000674782.1:c.*509G>T ENSP00000501683.1:n.*509G>T
ENST00000674937.1:c.547G>T ENSP00000501823.1:p.Val183Leu
ENST00000675322.1:c.307G>T ENSP00000502235.1:p.Val103Leu
ENST00000675675.1:c.307G>T ENSP00000501793.1:p.Val103Leu
ENST00000676178.1:c.*374G>T ENSP00000502007.1:n.*374G>T
ENST00000676193.1:c.589G>T ENSP00000502774.1:p.Val197Leu
ENST00000331373.9:c.589G>T ENSP00000331258.5:p.Val197Leu
ENST00000614426.1:c.589G>T ENSP00000478821.1:p.Val197Leu
NM_001277971.1:c.589G>T NP_001264900.1:p.Val197Leu
NM_032237.4:c.589G>T NP_115613.1:p.Val197Leu
XM_011544668.1:c.589G>T XP_011542970.1:p.Val197Leu
XM_011544669.1:c.589G>T XP_011542971.1:p.Val197Leu
NM_032237.5:c.589G>T MANE Select NP_115613.1:p.Val197Leu
NM_001277971.2:c.589G>T NP_001264900.1:p.Val197Leu