Canonical Allele Identifier: CA376034302

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325789C>G (hg19) ; chr10:g.13283789C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283789C>G , CM000672.2:g.13283789C>G	GRCh38
NC_000010.10:g.13325789C>G , CM000672.1:g.13325789C>G	GRCh37
NC_000010.9:g.13365795C>G	NCBI36
NG_012862.1:g.21342G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.729G>C MANE Select	ENSP00000263038.4:p.Lys243Asn
ENST00000263038.8:c.729G>C	ENSP00000263038.4:p.Lys243Asn
ENST00000396913.6:c.429G>C	ENSP00000380121.2:p.Lys143Asn
ENST00000396920.7:c.678G>C	ENSP00000380126.3:p.Lys226Asn
ENST00000453759.6:c.429G>C	ENSP00000412525.2:p.Lys143Asn
NM_001037537.1:c.429G>C	NP_001032626.1:p.Lys143Asn
NM_006214.3:c.729G>C	NP_006205.1:p.Lys243Asn
XM_005252469.2:c.510G>C	XP_005252526.1:p.Lys170Asn
NM_001323080.1:c.429G>C	NP_001310009.1:p.Lys143Asn
NM_001323082.1:c.735G>C	NP_001310011.1:p.Lys245Asn
NM_001323083.1:c.465G>C	NP_001310012.1:p.Lys155Asn
NM_001323084.1:c.435G>C	NP_001310013.1:p.Lys145Asn
NM_006214.4:c.729G>C MANE Select	NP_006205.1:p.Lys243Asn
NM_001037537.2:c.429G>C	NP_001032626.1:p.Lys143Asn
NM_001323080.2:c.429G>C	NP_001310009.1:p.Lys143Asn
NM_001323082.2:c.735G>C	NP_001310011.1:p.Lys245Asn
NM_001323083.2:c.465G>C	NP_001310012.1:p.Lys155Asn
NM_001323084.2:c.435G>C	NP_001310013.1:p.Lys145Asn