Canonical Allele Identifier: CA468239718

Gene: PHYH

Linked Data

• ClinVar Variation Id: 2993341
• ClinVar RCV Id: RCV003850436
• dbSNP Id: rs1407156746
• MyVariant Identifiers: chr10:g.13330441G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288441G>A , CM000672.2:g.13288441G>A	GRCh38
NC_000010.10:g.13330441G>A , CM000672.1:g.13330441G>A	GRCh37
NC_000010.9:g.13370447G>A	NCBI36
NG_012862.1:g.16690C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.597C>T MANE Select	ENSP00000263038.4:p.Ile199=
ENST00000263038.8:c.597C>T	ENSP00000263038.4:p.Ile199=
ENST00000396913.6:c.297C>T	ENSP00000380121.2:p.Ile99=
ENST00000396920.7:c.546C>T	ENSP00000380126.3:p.Ile182=
ENST00000453759.6:c.297C>T	ENSP00000412525.2:p.Ile99=
ENST00000479604.1:c.603C>T	ENSP00000420117.1:p.Ile201=
NM_001037537.1:c.297C>T	NP_001032626.1:p.Ile99=
NM_006214.3:c.597C>T	NP_006205.1:p.Ile199=
XM_005252469.2:c.460-4602C>T	XP_005252526.1:n.460-4602C>T
NM_001323080.1:c.297C>T	NP_001310009.1:p.Ile99=
NM_001323082.1:c.603C>T	NP_001310011.1:p.Ile201=
NM_001323083.1:c.415-4602C>T	NP_001310012.1:n.415-4602C>T
NM_001323084.1:c.303C>T	NP_001310013.1:p.Ile101=
NM_006214.4:c.597C>T MANE Select	NP_006205.1:p.Ile199=
NM_001037537.2:c.297C>T	NP_001032626.1:p.Ile99=
NM_001323080.2:c.297C>T	NP_001310009.1:p.Ile99=
NM_001323082.2:c.603C>T	NP_001310011.1:p.Ile201=
NM_001323083.2:c.415-4602C>T	NP_001310012.1:n.415-4602C>T
NM_001323084.2:c.303C>T	NP_001310013.1:p.Ile101=