Canonical Allele Identifier: CA035270

Gene: PHKB

Linked Data

• ClinVar Variation Id: 13621
• ClinVar RCV Id: RCV000014591
• PubMed: PMID:9215682

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.[47696408T>C;47696411G>T] , CM000678.2:g.[47696408T>C;47696411G>T]	GRCh38
NC_000016.9:g.[47730319T>C;47730322G>T] , CM000678.1:g.[47730319T>C;47730322G>T]	GRCh37
NC_000016.8:g.[46287820T>C;46287823G>T]	NCBI36
NG_016598.1:g.[240110T>C;240113G>T]

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.[*1497T>C;*1500G>T]	ENSP00000512887.1:n.[*1497T>C;*1500G>T]
ENST00000699276.1:c.[*551T>C;*554G>T]	ENSP00000514257.1:n.[*551T>C;*554G>T]
ENST00000323584.10:c.[2923T>C;2926G>T] MANE Select	ENSP00000313504.5:p.[Tyr975His;Glu976Ter]...
ENST00000299167.12:c.[2923T>C;2926G>T]	ENSP00000299167.8:p.[Tyr975His;Glu976Ter]...
ENST00000323584.9:c.[2923T>C;2926G>T]	ENSP00000313504.5:p.[Tyr975His;Glu976Ter]...
ENST00000566044.5:c.[2902T>C;2905G>T]	ENSP00000456729.1:p.[Tyr968His;Glu969Ter]...
ENST00000566319.2:n.[1739T>C;1742G>T]
NM_000293.2:c.[2923T>C;2926G>T]	NP_000284.1:p.[Tyr975His;Glu976Ter]
NM_001031835.2:c.[2902T>C;2905G>T]	NP_001027005.1:p.[Tyr968His;Glu969Ter]
XM_005255983.3:c.[2923T>C;2926G>T]	XP_005256040.1:p.[Tyr975His;Glu976Ter]
XM_005255984.3:c.[2902T>C;2905G>T]	XP_005256041.1:p.[Tyr968His;Glu969Ter]
XM_011523107.1:c.[1501T>C;1504G>T]	XP_011521409.1:p.[Tyr501His;Glu502Ter]
NM_001363837.1:c.[2923T>C;2926G>T]	NP_001350766.1:p.[Tyr975His;Glu976Ter]
XM_005255983.4:c.[2923T>C;2926G>T]	XP_005256040.1:p.[Tyr975His;Glu976Ter]
XM_005255984.4:c.[2902T>C;2905G>T]	XP_005256041.1:p.[Tyr968His;Glu969Ter]
XM_017023282.1:c.[1810T>C;1813G>T]	XP_016878771.1:p.[Tyr604His;Glu605Ter]
XM_017023283.1:c.[1501T>C;1504G>T]	XP_016878772.1:p.[Tyr501His;Glu502Ter]
XM_017023284.1:c.[1501T>C;1504G>T]	XP_016878773.1:p.[Tyr501His;Glu502Ter]
XR_001751913.1:n.[2847T>C;2850G>T]
NM_000293.3:c.[2923T>C;2926G>T] MANE Select	NP_000284.1:p.[Tyr975His;Glu976Ter]
NM_001031835.3:c.[2902T>C;2905G>T]	NP_001027005.1:p.[Tyr968His;Glu969Ter]