Canonical Allele Identifier: CA5412301

Gene: PHYH

Linked Data

• ClinVar Variation Id: 1062074
• ClinVar RCV Id: RCV001371748
• dbSNP Id: rs775543889
• ExAC: 10:13330429 G / C
• gnomAD v2: 10-13330429-G-C
• gnomAD v3: 10-13288429-G-C
• gnomAD v4: 10-13288429-G-C
• MyVariant Identifiers: chr10:g.13330429G>C (hg19) ; chr10:g.13288429G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288429G>C , CM000672.2:g.13288429G>C	GRCh38
NC_000010.10:g.13330429G>C , CM000672.1:g.13330429G>C	GRCh37
NC_000010.9:g.13370435G>C	NCBI36
NG_012862.1:g.16702C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.609C>G MANE Select	ENSP00000263038.4:p.Asn203Lys
ENST00000263038.8:c.609C>G	ENSP00000263038.4:p.Asn203Lys
ENST00000396913.6:c.309C>G	ENSP00000380121.2:p.Asn103Lys
ENST00000396920.7:c.558C>G	ENSP00000380126.3:p.Asn186Lys
ENST00000453759.6:c.309C>G	ENSP00000412525.2:p.Asn103Lys
ENST00000479604.1:c.615C>G	ENSP00000420117.1:p.Asn205Lys
NM_001037537.1:c.309C>G	NP_001032626.1:p.Asn103Lys
NM_006214.3:c.609C>G	NP_006205.1:p.Asn203Lys
XM_005252469.2:c.460-4590C>G	XP_005252526.1:n.460-4590C>G
NM_001323080.1:c.309C>G	NP_001310009.1:p.Asn103Lys
NM_001323082.1:c.615C>G	NP_001310011.1:p.Asn205Lys
NM_001323083.1:c.415-4590C>G	NP_001310012.1:n.415-4590C>G
NM_001323084.1:c.315C>G	NP_001310013.1:p.Asn105Lys
NM_006214.4:c.609C>G MANE Select	NP_006205.1:p.Asn203Lys
NM_001037537.2:c.309C>G	NP_001032626.1:p.Asn103Lys
NM_001323080.2:c.309C>G	NP_001310009.1:p.Asn103Lys
NM_001323082.2:c.615C>G	NP_001310011.1:p.Asn205Lys
NM_001323083.2:c.415-4590C>G	NP_001310012.1:n.415-4590C>G
NM_001323084.2:c.315C>G	NP_001310013.1:p.Asn105Lys