Canonical Allele Identifier: CA5412230

Gene: PHYH

Linked Data

• dbSNP Id: rs761633788
• ExAC: 10:13325641 TG / T
• gnomAD v2: 10-13325641-TG-T
• gnomAD v3: 10-13283641-TG-T
• gnomAD v4: 10-13283641-TG-T
• MyVariant Identifiers: chr10:g.13325642del (hg19) ; chr10:g.13283642del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283642del , CM000672.2:g.13283642del	GRCh38
NC_000010.10:g.13325642del , CM000672.1:g.13325642del	GRCh37
NC_000010.9:g.13365648del	NCBI36
NG_012862.1:g.21489del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.828+48del MANE Select	ENSP00000263038.4:n.828+48del
ENST00000263038.8:c.828+48del	ENSP00000263038.4:n.828+48del
ENST00000396913.6:c.528+48del	ENSP00000380121.2:n.528+48del
ENST00000396920.7:c.777+48del	ENSP00000380126.3:n.777+48del
NM_001037537.1:c.528+48del	NP_001032626.1:n.528+48del
NM_006214.3:c.828+48del	NP_006205.1:n.828+48del
XM_005252469.2:c.609+48del	XP_005252526.1:n.609+48del
NM_001323080.1:c.528+48del	NP_001310009.1:n.528+48del
NM_001323082.1:c.834+48del	NP_001310011.1:n.834+48del
NM_001323083.1:c.564+48del	NP_001310012.1:n.564+48del
NM_001323084.1:c.534+48del	NP_001310013.1:n.534+48del
NM_006214.4:c.828+48del MANE Select	NP_006205.1:n.828+48del
NM_001037537.2:c.528+48del	NP_001032626.1:n.528+48del
NM_001323080.2:c.528+48del	NP_001310009.1:n.528+48del
NM_001323082.2:c.834+48del	NP_001310011.1:n.834+48del
NM_001323083.2:c.564+48del	NP_001310012.1:n.564+48del
NM_001323084.2:c.534+48del	NP_001310013.1:n.534+48del