Canonical Allele Identifier: CA412573299

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22132577T>C (hg19) ; chrX:g.22114459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22114459T>C , CM000685.2:g.22114459T>C	GRCh38
NC_000023.10:g.22132577T>C , CM000685.1:g.22132577T>C	GRCh37
NC_000023.9:g.22042498T>C	NCBI36
NG_007563.2:g.86657T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684143.1:c.1172T>C	ENSP00000508264.1:p.Val391Ala
ENST00000684745.1:n.849T>C
ENST00000379374.5:c.1175T>C MANE Select	ENSP00000368682.4:p.Val392Ala
ENST00000379374.4:c.1175T>C	ENSP00000368682.4:p.Val392Ala
NM_000444.5:c.1175T>C	NP_000435.3:p.Val392Ala
NM_001282754.1:c.1175T>C	NP_001269683.1:p.Val392Ala
XM_011545533.1:c.419T>C	XP_011543835.1:p.Val140Ala
XM_011545534.1:c.419T>C	XP_011543836.1:p.Val140Ala
XM_011545535.1:c.1175T>C	XP_011543837.1:p.Val392Ala
XM_011545536.1:c.68T>C	XP_011543838.1:p.Val23Ala
XM_011545536.2:c.68T>C	XP_011543838.1:p.Val23Ala
XM_017029579.1:c.419T>C	XP_016885068.1:p.Val140Ala
XM_024452390.1:c.884T>C	XP_024308158.1:p.Val295Ala
XR_001755695.1:n.1854T>C
NM_000444.6:c.1175T>C MANE Select	NP_000435.3:p.Val392Ala
NM_001282754.2:c.1175T>C	NP_001269683.1:p.Val392Ala