Canonical Allele Identifier: CA376035407

Gene: PHYH

Linked Data

• ClinVar Variation Id: 2188062
• ClinVar RCV Id: RCV002616242
• dbSNP Id: rs1835611593
• gnomAD v3: 10-13288433-T-C
• gnomAD v4: 10-13288433-T-C
• MyVariant Identifiers: chr10:g.13330433T>C (hg19) ; chr10:g.13288433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288433T>C , CM000672.2:g.13288433T>C	GRCh38
NC_000010.10:g.13330433T>C , CM000672.1:g.13330433T>C	GRCh37
NC_000010.9:g.13370439T>C	NCBI36
NG_012862.1:g.16698A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.605A>G MANE Select	ENSP00000263038.4:p.Asn202Ser
ENST00000263038.8:c.605A>G	ENSP00000263038.4:p.Asn202Ser
ENST00000396913.6:c.305A>G	ENSP00000380121.2:p.Asn102Ser
ENST00000396920.7:c.554A>G	ENSP00000380126.3:p.Asn185Ser
ENST00000453759.6:c.305A>G	ENSP00000412525.2:p.Asn102Ser
ENST00000479604.1:c.611A>G	ENSP00000420117.1:p.Asn204Ser
NM_001037537.1:c.305A>G	NP_001032626.1:p.Asn102Ser
NM_006214.3:c.605A>G	NP_006205.1:p.Asn202Ser
XM_005252469.2:c.460-4594A>G	XP_005252526.1:n.460-4594A>G
NM_001323080.1:c.305A>G	NP_001310009.1:p.Asn102Ser
NM_001323082.1:c.611A>G	NP_001310011.1:p.Asn204Ser
NM_001323083.1:c.415-4594A>G	NP_001310012.1:n.415-4594A>G
NM_001323084.1:c.311A>G	NP_001310013.1:p.Asn104Ser
NM_006214.4:c.605A>G MANE Select	NP_006205.1:p.Asn202Ser
NM_001037537.2:c.305A>G	NP_001032626.1:p.Asn102Ser
NM_001323080.2:c.305A>G	NP_001310009.1:p.Asn102Ser
NM_001323082.2:c.611A>G	NP_001310011.1:p.Asn204Ser
NM_001323083.2:c.415-4594A>G	NP_001310012.1:n.415-4594A>G
NM_001323084.2:c.311A>G	NP_001310013.1:p.Asn104Ser