Canonical Allele Identifier: CA4736167

Gene: POMK

Linked Data

• ClinVar Variation Id: 432418
• ClinVar RCV Id: RCV000498565 ; RCV001085408
• dbSNP Id: rs143957574
• ExAC: 8:42958711 A / G
• gnomAD v2: 8-42958711-A-G
• gnomAD v3: 8-43103568-A-G
• gnomAD v4: 8-43103568-A-G
• MyVariant Identifiers: chr8:g.42958711A>G (hg19) ; chr8:g.43103568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43103568A>G , CM000670.2:g.43103568A>G	GRCh38
NC_000008.10:g.42958711A>G , CM000670.1:g.42958711A>G	GRCh37
NC_000008.9:g.43077868A>G	NCBI36
NG_033235.1:g.15063A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.20A>G MANE Select	ENSP00000331258.5:p.Asn7Ser
ENST00000518991.6:c.20A>G	ENSP00000429090.2:p.Asn7Ser
ENST00000614426.2:c.20A>G	ENSP00000478821.2:p.Asn7Ser
ENST00000674727.1:n.278A>G
ENST00000674782.1:c.20A>G	ENSP00000501683.1:p.Asn7Ser
ENST00000674820.1:c.20A>G	ENSP00000502636.1:p.Asn7Ser
ENST00000674937.1:c.20A>G	ENSP00000501823.1:p.Asn7Ser
ENST00000675129.1:c.20A>G	ENSP00000501906.1:p.Asn7Ser
ENST00000676178.1:c.20A>G	ENSP00000502007.1:p.Asn7Ser
ENST00000676193.1:c.20A>G	ENSP00000502774.1:p.Asn7Ser
ENST00000331373.9:c.20A>G	ENSP00000331258.5:p.Asn7Ser
ENST00000518991.5:c.20A>G	ENSP00000429090.1:p.Asn7Ser
ENST00000614426.1:c.20A>G	ENSP00000478821.1:p.Asn7Ser
NM_001277971.1:c.20A>G	NP_001264900.1:p.Asn7Ser
NM_032237.4:c.20A>G	NP_115613.1:p.Asn7Ser
XM_011544668.1:c.20A>G	XP_011542970.1:p.Asn7Ser
XM_011544669.1:c.20A>G	XP_011542971.1:p.Asn7Ser
NM_032237.5:c.20A>G MANE Select	NP_115613.1:p.Asn7Ser
NM_001277971.2:c.20A>G	NP_001264900.1:p.Asn7Ser