Canonical Allele Identifier: CA376034249

Gene: PHYH

Linked Data

• dbSNP Id: rs1835475675
• gnomAD v3: 10-13283775-A-G
• gnomAD v4: 10-13283775-A-G
• MyVariant Identifiers: chr10:g.13325775A>G (hg19) ; chr10:g.13283775A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283775A>G , CM000672.2:g.13283775A>G	GRCh38
NC_000010.10:g.13325775A>G , CM000672.1:g.13325775A>G	GRCh37
NC_000010.9:g.13365781A>G	NCBI36
NG_012862.1:g.21356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.743T>C MANE Select	ENSP00000263038.4:p.Leu248Pro
ENST00000263038.8:c.743T>C	ENSP00000263038.4:p.Leu248Pro
ENST00000396913.6:c.443T>C	ENSP00000380121.2:p.Leu148Pro
ENST00000396920.7:c.692T>C	ENSP00000380126.3:p.Leu231Pro
ENST00000453759.6:c.443T>C	ENSP00000412525.2:p.Leu148Pro
NM_001037537.1:c.443T>C	NP_001032626.1:p.Leu148Pro
NM_006214.3:c.743T>C	NP_006205.1:p.Leu248Pro
XM_005252469.2:c.524T>C	XP_005252526.1:p.Leu175Pro
NM_001323080.1:c.443T>C	NP_001310009.1:p.Leu148Pro
NM_001323082.1:c.749T>C	NP_001310011.1:p.Leu250Pro
NM_001323083.1:c.479T>C	NP_001310012.1:p.Leu160Pro
NM_001323084.1:c.449T>C	NP_001310013.1:p.Leu150Pro
NM_006214.4:c.743T>C MANE Select	NP_006205.1:p.Leu248Pro
NM_001037537.2:c.443T>C	NP_001032626.1:p.Leu148Pro
NM_001323080.2:c.443T>C	NP_001310009.1:p.Leu148Pro
NM_001323082.2:c.749T>C	NP_001310011.1:p.Leu250Pro
NM_001323083.2:c.479T>C	NP_001310012.1:p.Leu160Pro
NM_001323084.2:c.449T>C	NP_001310013.1:p.Leu150Pro