Canonical Allele Identifier: CA376034280

Gene: PHYH

Linked Data

• ClinVar Variation Id: 1435200
• ClinVar RCV Id: RCV001972151
• dbSNP Id: rs1835476065
• MyVariant Identifiers: chr10:g.13325782C>T (hg19) ; chr10:g.13283782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283782C>T , CM000672.2:g.13283782C>T	GRCh38
NC_000010.10:g.13325782C>T , CM000672.1:g.13325782C>T	GRCh37
NC_000010.9:g.13365788C>T	NCBI36
NG_012862.1:g.21349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.736G>A MANE Select	ENSP00000263038.4:p.Val246Met
ENST00000263038.8:c.736G>A	ENSP00000263038.4:p.Val246Met
ENST00000396913.6:c.436G>A	ENSP00000380121.2:p.Val146Met
ENST00000396920.7:c.685G>A	ENSP00000380126.3:p.Val229Met
ENST00000453759.6:c.436G>A	ENSP00000412525.2:p.Val146Met
NM_001037537.1:c.436G>A	NP_001032626.1:p.Val146Met
NM_006214.3:c.736G>A	NP_006205.1:p.Val246Met
XM_005252469.2:c.517G>A	XP_005252526.1:p.Val173Met
NM_001323080.1:c.436G>A	NP_001310009.1:p.Val146Met
NM_001323082.1:c.742G>A	NP_001310011.1:p.Val248Met
NM_001323083.1:c.472G>A	NP_001310012.1:p.Val158Met
NM_001323084.1:c.442G>A	NP_001310013.1:p.Val148Met
NM_006214.4:c.736G>A MANE Select	NP_006205.1:p.Val246Met
NM_001037537.2:c.436G>A	NP_001032626.1:p.Val146Met
NM_001323080.2:c.436G>A	NP_001310009.1:p.Val146Met
NM_001323082.2:c.742G>A	NP_001310011.1:p.Val248Met
NM_001323083.2:c.472G>A	NP_001310012.1:p.Val158Met
NM_001323084.2:c.442G>A	NP_001310013.1:p.Val148Met