Canonical Allele Identifier: CA10715983
Gene: KAZN HGNC NCBI

Linked Data

dbSNP Id: rs6667220
gnomAD v2: 1-15347640-G-A
gnomAD v3: 1-15021144-G-A
gnomAD v4: 1-15021144-G-A
MyVariant Identifiers: chr1:g.15347640G>A (hg19) chr1:g.15021144G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15021144G>A , CM000663.2:g.15021144G>A GRCh38
NC_000001.10:g.15347640G>A , CM000663.1:g.15347640G>A GRCh37
NC_000001.9:g.15220227G>A NCBI36
NG_029844.1:g.427428G>A
NG_029844.2:g.1132759G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376030.7:c.419-13605G>A MANE Select ENSP00000365198.2:n.419-13605G>A
ENST00000636203.1:c.683-13605G>A ENSP00000490958.1:n.683-13605G>A
ENST00000361144.9:c.401-13605G>A ENSP00000354727.5:n.401-13605G>A
ENST00000376028.8:c.137-13605G>A ENSP00000365196.4:n.137-13605G>A
ENST00000376030.6:c.419-13605G>A ENSP00000365198.2:n.419-13605G>A
ENST00000400797.3:c.137-13605G>A ENSP00000383601.3:n.137-13605G>A
ENST00000400798.6:c.137-13605G>A ENSP00000383602.2:n.137-13605G>A
ENST00000491547.1:n.713-13605G>A
ENST00000503743.5:c.419-13605G>A ENSP00000426015.1:n.419-13605G>A
NM_001017999.2:c.137-13605G>A NP_001017999.1:n.137-13605G>A
NM_001018000.3:c.401-13605G>A NP_001018000.1:n.401-13605G>A
NM_001018001.2:c.137-13605G>A NP_001018001.1:n.137-13605G>A
NM_015209.2:c.419-13605G>A NP_056024.1:n.419-13605G>A
NM_201628.2:c.419-13605G>A NP_963922.2:n.419-13605G>A
XM_005245795.3:c.713-13605G>A XP_005245852.1:n.713-13605G>A
XM_011541074.1:c.713-13605G>A XP_011539376.1:n.713-13605G>A
XM_011541075.1:c.401-13605G>A XP_011539377.1:n.401-13605G>A
XM_011541076.1:c.137-13605G>A XP_011539378.1:n.137-13605G>A
XM_011541077.1:c.137-13605G>A XP_011539379.1:n.137-13605G>A
XM_011541078.1:c.713-13605G>A XP_011539380.1:n.713-13605G>A
XM_011541079.1:c.713-13605G>A XP_011539381.1:n.713-13605G>A
XM_011541080.1:c.713-13605G>A XP_011539382.1:n.713-13605G>A
XM_005245795.5:c.713-13605G>A XP_005245852.1:n.713-13605G>A
XM_011541074.3:c.713-13605G>A XP_011539376.1:n.713-13605G>A
XM_011541075.2:c.401-13605G>A XP_011539377.1:n.401-13605G>A
XM_011541076.2:c.137-13605G>A XP_011539378.1:n.137-13605G>A
XM_011541077.2:c.137-13605G>A XP_011539379.1:n.137-13605G>A
XM_011541080.3:c.713-13605G>A XP_011539382.1:n.713-13605G>A
XM_017000768.2:c.713-13605G>A XP_016856257.1:n.713-13605G>A
XM_017000769.2:c.713-13605G>A XP_016856258.1:n.713-13605G>A
XM_017000770.2:c.713-13605G>A XP_016856259.1:n.713-13605G>A
XM_017000771.1:c.419-13605G>A XP_016856260.1:n.419-13605G>A
XM_017000772.2:c.194-13605G>A XP_016856261.1:n.194-13605G>A
NM_201628.3:c.419-13605G>A MANE Select NP_963922.2:n.419-13605G>A
NM_001370229.1:c.392-13605G>A NP_001357158.1:n.392-13605G>A
NM_001370230.1:c.224-13605G>A NP_001357159.1:n.224-13605G>A
NM_001370231.1:c.416-13605G>A NP_001357160.1:n.416-13605G>A
NM_001017999.3:c.137-13605G>A NP_001017999.1:n.137-13605G>A
NM_001018000.4:c.401-13605G>A NP_001018000.1:n.401-13605G>A
NM_001018001.3:c.137-13605G>A NP_001018001.1:n.137-13605G>A
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