Canonical Allele Identifier: CA2693308527

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22248060-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248060T>G , CM000685.2:g.22248060T>G	GRCh38
NC_000023.10:g.22266177T>G , CM000685.1:g.22266177T>G	GRCh37
NC_000023.9:g.22176098T>G	NCBI36
NG_007563.2:g.220257T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*295T>G (PHEX)	ENSP00000508059.1:n.*295T>G
ENST00000683289.1:c.624+20449T>G (PHEX)	ENSP00000508195.1:n.624+20449T>G
ENST00000683917.1:n.1141T>G (PHEX)
ENST00000684356.1:c.*107T>G (PHEX)	ENSP00000507619.1:n.*107T>G
ENST00000684745.1:n.2031T>G (PHEX)
ENST00000379374.5:c.*107T>G (PHEX) MANE Select	ENSP00000368682.4:n.*107T>G
ENST00000379374.4:c.*107T>G (PHEX)	ENSP00000368682.4:n.*107T>G
NM_000444.5:c.*107T>G (PHEX)	NP_000435.3:n.*107T>G
NM_001282754.1:c.*192T>G (PHEX)	NP_001269683.1:n.*192T>G
XM_011545533.1:c.*107T>G (PHEX)	XP_011543835.1:n.*107T>G
XM_011545534.1:c.*107T>G (PHEX)	XP_011543836.1:n.*107T>G
XM_011545536.1:c.*107T>G (PHEX)	XP_011543838.1:n.*107T>G
XR_950533.1:n.140+5879A>C
XR_950534.1:n.127+5879A>C
NR_073010.2:n.850+5879A>C (PTCHD1-AS)
XM_011545536.2:c.*107T>G (PHEX)	XP_011543838.1:n.*107T>G
XM_017029579.1:c.*107T>G (PHEX)	XP_016885068.1:n.*107T>G
XM_024452390.1:c.*107T>G (PHEX)	XP_024308158.1:n.*107T>G
XR_001755695.1:n.3197T>G (PHEX)
NM_000444.6:c.*107T>G (PHEX) MANE Select	NP_000435.3:n.*107T>G
NM_001282754.2:c.*192T>G (PHEX)	NP_001269683.1:n.*192T>G