Canonical Allele Identifier: CA10368112

Gene: PHEX

Linked Data

• dbSNP Id: rs761416628
• ExAC: X:22112197 T / C
• gnomAD v2: X-22112197-T-C
• gnomAD v3: X-22094079-T-C
• gnomAD v4: X-22094079-T-C
• MyVariant Identifiers: chrX:g.22112197T>C (hg19) ; chrX:g.22094079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094079T>C , CM000685.2:g.22094079T>C	GRCh38
NC_000023.10:g.22112197T>C , CM000685.1:g.22112197T>C	GRCh37
NC_000023.9:g.22022118T>C	NCBI36
NG_007563.2:g.66277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1255T>C
ENST00000684143.1:c.826T>C	ENSP00000508264.1:p.Leu276=
ENST00000684745.1:n.503T>C
ENST00000379374.5:c.829T>C MANE Select	ENSP00000368682.4:p.Leu277=
ENST00000379374.4:c.829T>C	ENSP00000368682.4:p.Leu277=
ENST00000475778.1:n.102T>C
NM_000444.5:c.829T>C	NP_000435.3:p.Leu277=
NM_001282754.1:c.829T>C	NP_001269683.1:p.Leu277=
XM_011545533.1:c.73T>C	XP_011543835.1:p.Leu25=
XM_011545534.1:c.73T>C	XP_011543836.1:p.Leu25=
XM_011545535.1:c.829T>C	XP_011543837.1:p.Leu277=
XM_017029579.1:c.73T>C	XP_016885068.1:p.Leu25=
XM_024452390.1:c.538T>C	XP_024308158.1:p.Leu180=
XR_001755695.1:n.1508T>C
NM_000444.6:c.829T>C MANE Select	NP_000435.3:p.Leu277=
NM_001282754.2:c.829T>C	NP_001269683.1:p.Leu277=