Canonical Allele Identifier: CA640405515

Gene: PHEX

Linked Data

• dbSNP Id: rs1181212781
• gnomAD v2: X-22051117-C-T
• gnomAD v3: X-22032999-C-T
• gnomAD v4: X-22032999-C-T
• MyVariant Identifiers: chrX:g.22051117C>T (hg19) ; chrX:g.22032999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22032999C>T , CM000685.2:g.22032999C>T	GRCh38
NC_000023.10:g.22051117C>T , CM000685.1:g.22051117C>T	GRCh37
NC_000023.9:g.21961038C>T	NCBI36
NG_007563.2:g.5197C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.420C>T
ENST00000683214.1:n.420C>T
ENST00000684143.1:c.-7C>T	ENSP00000508264.1:n.-7C>T
ENST00000379374.5:c.-7C>T MANE Select	ENSP00000368682.4:n.-7C>T
ENST00000379374.4:c.-7C>T	ENSP00000368682.4:n.-7C>T
NM_000444.5:c.-7C>T	NP_000435.3:n.-7C>T
NM_001282754.1:c.-7C>T	NP_001269683.1:n.-7C>T
XM_011545535.1:c.-7C>T	XP_011543837.1:n.-7C>T
XR_001755695.1:n.673C>T
NM_000444.6:c.-7C>T MANE Select	NP_000435.3:n.-7C>T
NM_001282754.2:c.-7C>T	NP_001269683.1:n.-7C>T