Canonical Allele Identifier: CA592075245

Gene: PHYH

Linked Data

• dbSNP Id: rs1292873172
• gnomAD v2: 10-13325857-T-C
• gnomAD v4: 10-13283857-T-C
• MyVariant Identifiers: chr10:g.13325857T>C (hg19) ; chr10:g.13283857T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283857T>C , CM000672.2:g.13283857T>C	GRCh38
NC_000010.10:g.13325857T>C , CM000672.1:g.13325857T>C	GRCh37
NC_000010.9:g.13365863T>C	NCBI36
NG_012862.1:g.21274A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.679-18A>G MANE Select	ENSP00000263038.4:n.679-18A>G
ENST00000263038.8:c.679-18A>G	ENSP00000263038.4:n.679-18A>G
ENST00000396913.6:c.379-18A>G	ENSP00000380121.2:n.379-18A>G
ENST00000396920.7:c.628-18A>G	ENSP00000380126.3:n.628-18A>G
ENST00000453759.6:c.379-18A>G	ENSP00000412525.2:n.379-18A>G
NM_001037537.1:c.379-18A>G	NP_001032626.1:n.379-18A>G
NM_006214.3:c.679-18A>G	NP_006205.1:n.679-18A>G
XM_005252469.2:c.460-18A>G	XP_005252526.1:n.460-18A>G
NM_001323080.1:c.379-18A>G	NP_001310009.1:n.379-18A>G
NM_001323082.1:c.685-18A>G	NP_001310011.1:n.685-18A>G
NM_001323083.1:c.415-18A>G	NP_001310012.1:n.415-18A>G
NM_001323084.1:c.385-18A>G	NP_001310013.1:n.385-18A>G
NM_006214.4:c.679-18A>G MANE Select	NP_006205.1:n.679-18A>G
NM_001037537.2:c.379-18A>G	NP_001032626.1:n.379-18A>G
NM_001323080.2:c.379-18A>G	NP_001310009.1:n.379-18A>G
NM_001323082.2:c.685-18A>G	NP_001310011.1:n.685-18A>G
NM_001323083.2:c.415-18A>G	NP_001310012.1:n.415-18A>G
NM_001323084.2:c.385-18A>G	NP_001310013.1:n.385-18A>G