Canonical Allele Identifier: CA10450458

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72582453A>C , CM000685.2:g.72582453A>C	GRCh38
NC_000023.10:g.71802303A>C , CM000685.1:g.71802303A>C	GRCh37
NC_000023.9:g.71719028A>C	NCBI36
NG_016599.1:g.136727T>G
NG_016599.2:g.136729T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.3443T>G MANE Select	ENSP00000362643.4:p.Ile1148Ser
ENST00000339490.7:c.3404T>G	ENSP00000342469.3:p.Ile1135Ser
ENST00000373539.3:c.3494T>G	ENSP00000362640.3:p.Ile1165Ser
ENST00000373542.8:c.3443T>G	ENSP00000362643.4:p.Ile1148Ser
ENST00000373545.7:c.3317T>G	ENSP00000362646.3:p.Ile1106Ser
ENST00000541944.5:c.3227T>G	ENSP00000441251.1:p.Ile1076Ser
NM_001122670.1:c.3404T>G	NP_001116142.1:p.Ile1135Ser
NM_001172436.1:c.3227T>G	NP_001165907.1:p.Ile1076Ser
NM_002637.3:c.3443T>G	NP_002628.2:p.Ile1148Ser
XM_006724661.2:c.3266T>G	XP_006724724.1:p.Ile1089Ser
XR_001755696.1:n.4373T>G
NM_002637.4:c.3443T>G MANE Select	NP_002628.2:p.Ile1148Ser
NM_001122670.2:c.3404T>G	NP_001116142.1:p.Ile1135Ser
NM_001172436.2:c.3227T>G	NP_001165907.1:p.Ile1076Ser