Canonical Allele Identifier: CA376035417

Gene: PHYH

Linked Data

• dbSNP Id: rs1436380043
• gnomAD v2: 10-13330436-C-A
• MyVariant Identifiers: chr10:g.13330436C>A (hg19) ; chr10:g.13288436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288436C>A , CM000672.2:g.13288436C>A	GRCh38
NC_000010.10:g.13330436C>A , CM000672.1:g.13330436C>A	GRCh37
NC_000010.9:g.13370442C>A	NCBI36
NG_012862.1:g.16695G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.602G>T MANE Select	ENSP00000263038.4:p.Arg201Leu
ENST00000263038.8:c.602G>T	ENSP00000263038.4:p.Arg201Leu
ENST00000396913.6:c.302G>T	ENSP00000380121.2:p.Arg101Leu
ENST00000396920.7:c.551G>T	ENSP00000380126.3:p.Arg184Leu
ENST00000453759.6:c.302G>T	ENSP00000412525.2:p.Arg101Leu
ENST00000479604.1:c.608G>T	ENSP00000420117.1:p.Arg203Leu
NM_001037537.1:c.302G>T	NP_001032626.1:p.Arg101Leu
NM_006214.3:c.602G>T	NP_006205.1:p.Arg201Leu
XM_005252469.2:c.460-4597G>T	XP_005252526.1:n.460-4597G>T
NM_001323080.1:c.302G>T	NP_001310009.1:p.Arg101Leu
NM_001323082.1:c.608G>T	NP_001310011.1:p.Arg203Leu
NM_001323083.1:c.415-4597G>T	NP_001310012.1:n.415-4597G>T
NM_001323084.1:c.308G>T	NP_001310013.1:p.Arg103Leu
NM_006214.4:c.602G>T MANE Select	NP_006205.1:p.Arg201Leu
NM_001037537.2:c.302G>T	NP_001032626.1:p.Arg101Leu
NM_001323080.2:c.302G>T	NP_001310009.1:p.Arg101Leu
NM_001323082.2:c.608G>T	NP_001310011.1:p.Arg203Leu
NM_001323083.2:c.415-4597G>T	NP_001310012.1:n.415-4597G>T
NM_001323084.2:c.308G>T	NP_001310013.1:p.Arg103Leu