Canonical Allele Identifier: CA495356943
Gene: PHKB HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.47536953A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47503042A>T , CM000678.2:g.47503042A>T GRCh38
NC_000016.9:g.47536953A>T , CM000678.1:g.47536953A>T GRCh37
NC_000016.8:g.46094454A>T NCBI36
NG_016598.1:g.46744A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696809.1:c.336A>T ENSP00000512887.1:p.Ile112=
ENST00000699276.1:c.336A>T ENSP00000514257.1:p.Ile112=
ENST00000323584.10:c.357A>T MANE Select ENSP00000313504.5:p.Ile119=
ENST00000299167.12:c.357A>T ENSP00000299167.8:p.Ile119=
ENST00000323584.9:c.357A>T ENSP00000313504.5:p.Ile119=
ENST00000563376.5:c.336A>T ENSP00000457905.1:p.Ile112=
ENST00000565424.2:n.96+41616A>T
ENST00000566037.6:c.336A>T ENSP00000455664.2:p.Ile112=
ENST00000566044.5:c.336A>T ENSP00000456729.1:p.Ile112=
ENST00000567402.5:n.372A>T
ENST00000570047.2:c.191A>T
NM_000293.2:c.357A>T NP_000284.1:p.Ile119=
NM_001031835.2:c.336A>T NP_001027005.1:p.Ile112=
XM_005255983.3:c.357A>T XP_005256040.1:p.Ile119=
XM_005255984.3:c.336A>T XP_005256041.1:p.Ile112=
XM_011523106.1:c.357A>T XP_011521408.1:p.Ile119=
NM_001363837.1:c.357A>T NP_001350766.1:p.Ile119=
XM_005255983.4:c.357A>T XP_005256040.1:p.Ile119=
XM_005255984.4:c.336A>T XP_005256041.1:p.Ile112=
XM_017023283.1:c.-1149A>T XP_016878772.1:n.-1149A>T
XM_017023284.1:c.-1149A>T XP_016878773.1:n.-1149A>T
XR_001751913.1:n.372A>T
NM_000293.3:c.357A>T MANE Select NP_000284.1:p.Ile119=
NM_001031835.3:c.336A>T NP_001027005.1:p.Ile112=