Canonical Allele Identifier: CA2608293075

Gene: PHYH

Linked Data

• gnomAD v4: 10-13283889-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283889A>G , CM000672.2:g.13283889A>G	GRCh38
NC_000010.10:g.13325889A>G , CM000672.1:g.13325889A>G	GRCh37
NC_000010.9:g.13365895A>G	NCBI36
NG_012862.1:g.21242T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.679-50T>C MANE Select	ENSP00000263038.4:n.679-50T>C
ENST00000263038.8:c.679-50T>C	ENSP00000263038.4:n.679-50T>C
ENST00000396913.6:c.379-50T>C	ENSP00000380121.2:n.379-50T>C
ENST00000396920.7:c.628-50T>C	ENSP00000380126.3:n.628-50T>C
ENST00000453759.6:c.379-50T>C	ENSP00000412525.2:n.379-50T>C
NM_001037537.1:c.379-50T>C	NP_001032626.1:n.379-50T>C
NM_006214.3:c.679-50T>C	NP_006205.1:n.679-50T>C
XM_005252469.2:c.460-50T>C	XP_005252526.1:n.460-50T>C
NM_001323080.1:c.379-50T>C	NP_001310009.1:n.379-50T>C
NM_001323082.1:c.685-50T>C	NP_001310011.1:n.685-50T>C
NM_001323083.1:c.415-50T>C	NP_001310012.1:n.415-50T>C
NM_001323084.1:c.385-50T>C	NP_001310013.1:n.385-50T>C
NM_006214.4:c.679-50T>C MANE Select	NP_006205.1:n.679-50T>C
NM_001037537.2:c.379-50T>C	NP_001032626.1:n.379-50T>C
NM_001323080.2:c.379-50T>C	NP_001310009.1:n.379-50T>C
NM_001323082.2:c.685-50T>C	NP_001310011.1:n.685-50T>C
NM_001323083.2:c.415-50T>C	NP_001310012.1:n.415-50T>C
NM_001323084.2:c.385-50T>C	NP_001310013.1:n.385-50T>C