Canonical Allele Identifier: CA376034075

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325708T>G (hg19) ; chr10:g.13283708T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283708T>G , CM000672.2:g.13283708T>G	GRCh38
NC_000010.10:g.13325708T>G , CM000672.1:g.13325708T>G	GRCh37
NC_000010.9:g.13365714T>G	NCBI36
NG_012862.1:g.21423A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.810A>C MANE Select	ENSP00000263038.4:p.Lys270Asn
ENST00000263038.8:c.810A>C	ENSP00000263038.4:p.Lys270Asn
ENST00000396913.6:c.510A>C	ENSP00000380121.2:p.Lys170Asn
ENST00000396920.7:c.759A>C	ENSP00000380126.3:p.Lys253Asn
ENST00000453759.6:c.510A>C	ENSP00000412525.2:p.Lys170Asn
NM_001037537.1:c.510A>C	NP_001032626.1:p.Lys170Asn
NM_006214.3:c.810A>C	NP_006205.1:p.Lys270Asn
XM_005252469.2:c.591A>C	XP_005252526.1:p.Lys197Asn
NM_001323080.1:c.510A>C	NP_001310009.1:p.Lys170Asn
NM_001323082.1:c.816A>C	NP_001310011.1:p.Lys272Asn
NM_001323083.1:c.546A>C	NP_001310012.1:p.Lys182Asn
NM_001323084.1:c.516A>C	NP_001310013.1:p.Lys172Asn
NM_006214.4:c.810A>C MANE Select	NP_006205.1:p.Lys270Asn
NM_001037537.2:c.510A>C	NP_001032626.1:p.Lys170Asn
NM_001323080.2:c.510A>C	NP_001310009.1:p.Lys170Asn
NM_001323082.2:c.816A>C	NP_001310011.1:p.Lys272Asn
NM_001323083.2:c.546A>C	NP_001310012.1:p.Lys182Asn
NM_001323084.2:c.516A>C	NP_001310013.1:p.Lys172Asn