Canonical Allele Identifier: CA495361399
Gene: PHKB HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.47730360A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696449A>C , CM000678.2:g.47696449A>C GRCh38
NC_000016.9:g.47730360A>C , CM000678.1:g.47730360A>C GRCh37
NC_000016.8:g.46287861A>C NCBI36
NG_016598.1:g.240151A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1538A>C ENSP00000512887.1:n.*1538A>C
ENST00000699276.1:c.*592A>C ENSP00000514257.1:n.*592A>C
ENST00000323584.10:c.2964A>C MANE Select ENSP00000313504.5:p.Gly988=
ENST00000299167.12:c.2964A>C ENSP00000299167.8:p.Gly988=
ENST00000323584.9:c.2964A>C ENSP00000313504.5:p.Gly988=
ENST00000566044.5:c.2943A>C ENSP00000456729.1:p.Gly981=
ENST00000566319.2:n.1780A>C
NM_000293.2:c.2964A>C NP_000284.1:p.Gly988=
NM_001031835.2:c.2943A>C NP_001027005.1:p.Gly981=
XM_005255983.3:c.2964A>C XP_005256040.1:p.Gly988=
XM_005255984.3:c.2943A>C XP_005256041.1:p.Gly981=
XM_011523107.1:c.1542A>C XP_011521409.1:p.Gly514=
NM_001363837.1:c.2964A>C NP_001350766.1:p.Gly988=
XM_005255983.4:c.2964A>C XP_005256040.1:p.Gly988=
XM_005255984.4:c.2943A>C XP_005256041.1:p.Gly981=
XM_017023282.1:c.1851A>C XP_016878771.1:p.Gly617=
XM_017023283.1:c.1542A>C XP_016878772.1:p.Gly514=
XM_017023284.1:c.1542A>C XP_016878773.1:p.Gly514=
XR_001751913.1:n.2888A>C
NM_000293.3:c.2964A>C MANE Select NP_000284.1:p.Gly988=
NM_001031835.3:c.2943A>C NP_001027005.1:p.Gly981=