Canonical Allele Identifier: CA10361349

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18895161G>A , CM000685.2:g.18895161G>A	GRCh38
NC_000023.10:g.18913279G>A , CM000685.1:g.18913279G>A	GRCh37
NC_000023.9:g.18823200G>A	NCBI36
NG_016622.1:g.94202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3313C>T MANE Select	ENSP00000369274.4:p.Leu1105Phe
ENST00000379942.4:c.3313C>T	ENSP00000369274.4:p.Leu1105Phe
ENST00000469485.5:n.1038C>T
ENST00000469645.5:n.713C>T
ENST00000473597.1:n.82C>T
ENST00000473739.5:n.405C>T
ENST00000481718.1:n.1474C>T
NM_000292.2:c.3313C>T	NP_000283.1:p.Leu1105Phe
XM_005274548.3:c.3259C>T	XP_005274605.1:p.Leu1087Phe
XM_005274550.3:c.3229C>T	XP_005274607.1:p.Leu1077Phe
XM_006724496.2:c.3337C>T	XP_006724559.1:p.Leu1113Phe
XM_006724498.2:c.2791C>T	XP_006724561.1:p.Leu931Phe
XM_011545537.1:c.3238C>T	XP_011543839.1:p.Leu1080Phe
XM_011545538.1:c.2320C>T	XP_011543840.1:p.Leu774Phe
XM_005274548.5:c.3259C>T	XP_005274605.1:p.Leu1087Phe
XM_005274550.5:c.3229C>T	XP_005274607.1:p.Leu1077Phe
XM_006724496.4:c.3337C>T	XP_006724559.1:p.Leu1113Phe
XM_006724498.4:c.2791C>T	XP_006724561.1:p.Leu931Phe
XM_011545537.3:c.3238C>T	XP_011543839.1:p.Leu1080Phe
XM_011545538.3:c.2320C>T	XP_011543840.1:p.Leu774Phe
XM_017029580.2:c.2431C>T	XP_016885069.1:p.Leu811Phe
XR_001755698.2:n.5441C>T
XR_002958777.1:n.3518C>T
NM_000292.3:c.3313C>T MANE Select	NP_000283.1:p.Leu1105Phe