Canonical Allele Identifier: CA2436816629

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72579006C>T , CM000685.2:g.72579006C>T	GRCh38
NC_000023.10:g.71798856C>T , CM000685.1:g.71798856C>T	GRCh37
NC_000023.9:g.71715581C>T	NCBI36
NG_016599.1:g.140174G>A
NG_016599.2:g.140176G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002637.4:c.*1996G>A MANE Select	NP_002628.2:n.*1996G>A
ENST00000373542.9:c.*1996G>A MANE Select	ENSP00000362643.4:n.*1996G>A
NM_001122670.1:c.*1996G>A	NP_001116142.1:n.*1996G>A
NM_001122670.2:c.*1996G>A	NP_001116142.1:n.*1996G>A
NM_001172436.1:c.*1996G>A	NP_001165907.1:n.*1996G>A
NM_001172436.2:c.*1996G>A	NP_001165907.1:n.*1996G>A
NM_002637.3:c.*1996G>A	NP_002628.2:n.*1996G>A
ENST00000339490.7:c.*1996G>A	ENSP00000342469.3:n.*1996G>A
ENST00000373542.8:c.*1996G>A	ENSP00000362643.4:n.*1996G>A
ENST00000373545.7:c.*1996G>A	ENSP00000362646.3:n.*1996G>A
ENST00000541944.5:c.*1996G>A	ENSP00000441251.1:n.*1996G>A
XM_006724661.2:c.*1996G>A	XP_006724724.1:n.*1996G>A
XR_001755696.1:n.6598G>A