Canonical Allele Identifier: CA5412304

Gene: PHYH

Linked Data

• dbSNP Id: rs143957922
• ExAC: 10:13330437 G / A
• gnomAD v2: 10-13330437-G-A
• gnomAD v3: 10-13288437-G-A
• gnomAD v4: 10-13288437-G-A
• COSMIC: COSM916260
• MyVariant Identifiers: chr10:g.13330437G>A (hg19) ; chr10:g.13288437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288437G>A , CM000672.2:g.13288437G>A	GRCh38
NC_000010.10:g.13330437G>A , CM000672.1:g.13330437G>A	GRCh37
NC_000010.9:g.13370443G>A	NCBI36
NG_012862.1:g.16694C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.601C>T MANE Select	ENSP00000263038.4:p.Arg201Trp
ENST00000263038.8:c.601C>T	ENSP00000263038.4:p.Arg201Trp
ENST00000396913.6:c.301C>T	ENSP00000380121.2:p.Arg101Trp
ENST00000396920.7:c.550C>T	ENSP00000380126.3:p.Arg184Trp
ENST00000453759.6:c.301C>T	ENSP00000412525.2:p.Arg101Trp
ENST00000479604.1:c.607C>T	ENSP00000420117.1:p.Arg203Trp
NM_001037537.1:c.301C>T	NP_001032626.1:p.Arg101Trp
NM_006214.3:c.601C>T	NP_006205.1:p.Arg201Trp
XM_005252469.2:c.460-4598C>T	XP_005252526.1:n.460-4598C>T
NM_001323080.1:c.301C>T	NP_001310009.1:p.Arg101Trp
NM_001323082.1:c.607C>T	NP_001310011.1:p.Arg203Trp
NM_001323083.1:c.415-4598C>T	NP_001310012.1:n.415-4598C>T
NM_001323084.1:c.307C>T	NP_001310013.1:p.Arg103Trp
NM_006214.4:c.601C>T MANE Select	NP_006205.1:p.Arg201Trp
NM_001037537.2:c.301C>T	NP_001032626.1:p.Arg101Trp
NM_001323080.2:c.301C>T	NP_001310009.1:p.Arg101Trp
NM_001323082.2:c.607C>T	NP_001310011.1:p.Arg203Trp
NM_001323083.2:c.415-4598C>T	NP_001310012.1:n.415-4598C>T
NM_001323084.2:c.307C>T	NP_001310013.1:p.Arg103Trp