Canonical Allele Identifier: CA376035395

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13330430T>G (hg19) ; chr10:g.13288430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288430T>G , CM000672.2:g.13288430T>G	GRCh38
NC_000010.10:g.13330430T>G , CM000672.1:g.13330430T>G	GRCh37
NC_000010.9:g.13370436T>G	NCBI36
NG_012862.1:g.16701A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.608A>C MANE Select	ENSP00000263038.4:p.Asn203Thr
ENST00000263038.8:c.608A>C	ENSP00000263038.4:p.Asn203Thr
ENST00000396913.6:c.308A>C	ENSP00000380121.2:p.Asn103Thr
ENST00000396920.7:c.557A>C	ENSP00000380126.3:p.Asn186Thr
ENST00000453759.6:c.308A>C	ENSP00000412525.2:p.Asn103Thr
ENST00000479604.1:c.614A>C	ENSP00000420117.1:p.Asn205Thr
NM_001037537.1:c.308A>C	NP_001032626.1:p.Asn103Thr
NM_006214.3:c.608A>C	NP_006205.1:p.Asn203Thr
XM_005252469.2:c.460-4591A>C	XP_005252526.1:n.460-4591A>C
NM_001323080.1:c.308A>C	NP_001310009.1:p.Asn103Thr
NM_001323082.1:c.614A>C	NP_001310011.1:p.Asn205Thr
NM_001323083.1:c.415-4591A>C	NP_001310012.1:n.415-4591A>C
NM_001323084.1:c.314A>C	NP_001310013.1:p.Asn105Thr
NM_006214.4:c.608A>C MANE Select	NP_006205.1:p.Asn203Thr
NM_001037537.2:c.308A>C	NP_001032626.1:p.Asn103Thr
NM_001323080.2:c.308A>C	NP_001310009.1:p.Asn103Thr
NM_001323082.2:c.614A>C	NP_001310011.1:p.Asn205Thr
NM_001323083.2:c.415-4591A>C	NP_001310012.1:n.415-4591A>C
NM_001323084.2:c.314A>C	NP_001310013.1:p.Asn105Thr