Canonical Allele Identifier: CA376034065

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325704G>A (hg19) ; chr10:g.13283704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283704G>A , CM000672.2:g.13283704G>A	GRCh38
NC_000010.10:g.13325704G>A , CM000672.1:g.13325704G>A	GRCh37
NC_000010.9:g.13365710G>A	NCBI36
NG_012862.1:g.21427C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.814C>T MANE Select	ENSP00000263038.4:p.Gln272Ter
ENST00000263038.8:c.814C>T	ENSP00000263038.4:p.Gln272Ter
ENST00000396913.6:c.514C>T	ENSP00000380121.2:p.Gln172Ter
ENST00000396920.7:c.763C>T	ENSP00000380126.3:p.Gln255Ter
ENST00000453759.6:c.514C>T	ENSP00000412525.2:p.Gln172Ter
NM_001037537.1:c.514C>T	NP_001032626.1:p.Gln172Ter
NM_006214.3:c.814C>T	NP_006205.1:p.Gln272Ter
XM_005252469.2:c.595C>T	XP_005252526.1:p.Gln199Ter
NM_001323080.1:c.514C>T	NP_001310009.1:p.Gln172Ter
NM_001323082.1:c.820C>T	NP_001310011.1:p.Gln274Ter
NM_001323083.1:c.550C>T	NP_001310012.1:p.Gln184Ter
NM_001323084.1:c.520C>T	NP_001310013.1:p.Gln174Ter
NM_006214.4:c.814C>T MANE Select	NP_006205.1:p.Gln272Ter
NM_001037537.2:c.514C>T	NP_001032626.1:p.Gln172Ter
NM_001323080.2:c.514C>T	NP_001310009.1:p.Gln172Ter
NM_001323082.2:c.820C>T	NP_001310011.1:p.Gln274Ter
NM_001323083.2:c.550C>T	NP_001310012.1:p.Gln184Ter
NM_001323084.2:c.520C>T	NP_001310013.1:p.Gln174Ter