Canonical Allele Identifier: CA376034480

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325824T>A (hg19) ; chr10:g.13283824T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283824T>A , CM000672.2:g.13283824T>A	GRCh38
NC_000010.10:g.13325824T>A , CM000672.1:g.13325824T>A	GRCh37
NC_000010.9:g.13365830T>A	NCBI36
NG_012862.1:g.21307A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.694A>T MANE Select	ENSP00000263038.4:p.Met232Leu
ENST00000263038.8:c.694A>T	ENSP00000263038.4:p.Met232Leu
ENST00000396913.6:c.394A>T	ENSP00000380121.2:p.Met132Leu
ENST00000396920.7:c.643A>T	ENSP00000380126.3:p.Met215Leu
ENST00000453759.6:c.394A>T	ENSP00000412525.2:p.Met132Leu
NM_001037537.1:c.394A>T	NP_001032626.1:p.Met132Leu
NM_006214.3:c.694A>T	NP_006205.1:p.Met232Leu
XM_005252469.2:c.475A>T	XP_005252526.1:p.Met159Leu
NM_001323080.1:c.394A>T	NP_001310009.1:p.Met132Leu
NM_001323082.1:c.700A>T	NP_001310011.1:p.Met234Leu
NM_001323083.1:c.430A>T	NP_001310012.1:p.Met144Leu
NM_001323084.1:c.400A>T	NP_001310013.1:p.Met134Leu
NM_006214.4:c.694A>T MANE Select	NP_006205.1:p.Met232Leu
NM_001037537.2:c.394A>T	NP_001032626.1:p.Met132Leu
NM_001323080.2:c.394A>T	NP_001310009.1:p.Met132Leu
NM_001323082.2:c.700A>T	NP_001310011.1:p.Met234Leu
NM_001323083.2:c.430A>T	NP_001310012.1:p.Met144Leu
NM_001323084.2:c.400A>T	NP_001310013.1:p.Met134Leu