Canonical Allele Identifier: CA581627410

Gene: POMK

Linked Data

• ClinVar Variation Id: 1619941
• ClinVar RCV Id: RCV002089201
• dbSNP Id: rs1478878602
• gnomAD v2: 8-42958985-T-A
• gnomAD v4: 8-43103842-T-A
• MyVariant Identifiers: chr8:g.42958985T>A (hg19) ; chr8:g.43103842T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43103842T>A , CM000670.2:g.43103842T>A	GRCh38
NC_000008.10:g.42958985T>A , CM000670.1:g.42958985T>A	GRCh37
NC_000008.9:g.43078142T>A	NCBI36
NG_033235.1:g.15337T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.282+12T>A MANE Select	ENSP00000331258.5:n.282+12T>A
ENST00000614426.2:c.282+12T>A	ENSP00000478821.2:n.282+12T>A
ENST00000674727.1:n.552T>A
ENST00000674782.1:c.282+12T>A	ENSP00000501683.1:n.282+12T>A
ENST00000674937.1:c.240+54T>A	ENSP00000501823.1:n.240+54T>A
ENST00000676178.1:c.282+12T>A	ENSP00000502007.1:n.282+12T>A
ENST00000676193.1:c.282+12T>A	ENSP00000502774.1:n.282+12T>A
ENST00000331373.9:c.282+12T>A	ENSP00000331258.5:n.282+12T>A
ENST00000518991.5:c.282+12T>A	ENSP00000429090.1:n.282+12T>A
ENST00000614426.1:c.282+12T>A	ENSP00000478821.1:n.282+12T>A
NM_001277971.1:c.282+12T>A	NP_001264900.1:n.282+12T>A
NM_032237.4:c.282+12T>A	NP_115613.1:n.282+12T>A
XM_011544668.1:c.282+12T>A	XP_011542970.1:n.282+12T>A
XM_011544669.1:c.282+12T>A	XP_011542971.1:n.282+12T>A
NM_032237.5:c.282+12T>A MANE Select	NP_115613.1:n.282+12T>A
NM_001277971.2:c.282+12T>A	NP_001264900.1:n.282+12T>A