Canonical Allele Identifier: CA250744

Gene: KAT5

Linked Data

• ClinVar Variation Id: 55934
• ClinVar RCV Id: RCV000049343
• dbSNP Id: rs386834229
• MyVariant Identifiers: chr11:g.65481267T>G (hg19) ; chr11:g.65713796T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65713796T>G , CM000673.2:g.65713796T>G	GRCh38
NC_000011.9:g.65481267T>G , CM000673.1:g.65481267T>G	GRCh37
NC_000011.8:g.65237843T>G	NCBI36
NG_008976.2:g.12143A>C , LRG_280:g.12143A>C
NG_033057.1:g.6795T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341318.9:c.638T>G MANE Select	ENSP00000340330.4:p.Val213Gly
ENST00000341318.8:c.638T>G	ENSP00000340330.4:p.Val213Gly
ENST00000352980.8:c.383T>G	ENSP00000344955.4:p.Val128Gly
ENST00000377046.7:c.539T>G	ENSP00000366245.3:p.Val180Gly
ENST00000527544.5:n.326T>G
ENST00000528198.5:c.365T>G	ENSP00000436000.1:p.Val122Gly
ENST00000530446.5:c.482T>G	ENSP00000434765.1:p.Val161Gly
ENST00000531880.1:c.521T>G	ENSP00000436012.1:p.Val174Gly
ENST00000534104.5:c.-95T>G	ENSP00000435939.1:n.-95T>G
ENST00000534293.5:n.333T>G
ENST00000534650.5:c.-95T>G	ENSP00000431819.1:n.-95T>G
ENST00000534681.1:c.-95T>G	ENSP00000434993.1:n.-95T>G
NM_001206833.1:c.482T>G	NP_001193762.1:p.Val161Gly
NM_006388.3:c.539T>G	NP_006379.2:p.Val180Gly
NM_182709.2:c.383T>G	NP_874368.1:p.Val128Gly
NM_182710.2:c.638T>G	NP_874369.1:p.Val213Gly
XM_006718421.1:c.566T>G	XP_006718484.1:p.Val189Gly
XM_011544733.1:c.566T>G	XP_011543035.1:p.Val189Gly
XM_006718421.3:c.566T>G	XP_006718484.1:p.Val189Gly
XR_001747726.2:n.816T>G
XR_001747727.2:n.781T>G
XR_001747728.1:n.497T>G
XR_002957116.1:n.620T>G
NM_182710.3:c.638T>G MANE Select	NP_874369.1:p.Val213Gly
NM_001206833.2:c.482T>G	NP_001193762.1:p.Val161Gly
NM_006388.4:c.539T>G	NP_006379.2:p.Val180Gly
NM_182709.3:c.383T>G	NP_874368.1:p.Val128Gly