Canonical Allele Identifier: CA5412305

Gene: PHYH

Linked Data

• ClinVar Variation Id: 1060043
• ClinVar RCV Id: RCV001369419
• dbSNP Id: rs148602565
• ExAC: 10:13330439 C / T
• gnomAD v2: 10-13330439-C-T
• gnomAD v3: 10-13288439-C-T
• gnomAD v4: 10-13288439-C-T
• MyVariant Identifiers: chr10:g.13330439C>T (hg19) ; chr10:g.13288439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288439C>T , CM000672.2:g.13288439C>T	GRCh38
NC_000010.10:g.13330439C>T , CM000672.1:g.13330439C>T	GRCh37
NC_000010.9:g.13370445C>T	NCBI36
NG_012862.1:g.16692G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.599G>A MANE Select	ENSP00000263038.4:p.Ser200Asn
ENST00000263038.8:c.599G>A	ENSP00000263038.4:p.Ser200Asn
ENST00000396913.6:c.299G>A	ENSP00000380121.2:p.Ser100Asn
ENST00000396920.7:c.548G>A	ENSP00000380126.3:p.Ser183Asn
ENST00000453759.6:c.299G>A	ENSP00000412525.2:p.Ser100Asn
ENST00000479604.1:c.605G>A	ENSP00000420117.1:p.Ser202Asn
NM_001037537.1:c.299G>A	NP_001032626.1:p.Ser100Asn
NM_006214.3:c.599G>A	NP_006205.1:p.Ser200Asn
XM_005252469.2:c.460-4600G>A	XP_005252526.1:n.460-4600G>A
NM_001323080.1:c.299G>A	NP_001310009.1:p.Ser100Asn
NM_001323082.1:c.605G>A	NP_001310011.1:p.Ser202Asn
NM_001323083.1:c.415-4600G>A	NP_001310012.1:n.415-4600G>A
NM_001323084.1:c.305G>A	NP_001310013.1:p.Ser102Asn
NM_006214.4:c.599G>A MANE Select	NP_006205.1:p.Ser200Asn
NM_001037537.2:c.299G>A	NP_001032626.1:p.Ser100Asn
NM_001323080.2:c.299G>A	NP_001310009.1:p.Ser100Asn
NM_001323082.2:c.605G>A	NP_001310011.1:p.Ser202Asn
NM_001323083.2:c.415-4600G>A	NP_001310012.1:n.415-4600G>A
NM_001323084.2:c.305G>A	NP_001310013.1:p.Ser102Asn