Canonical Allele Identifier: CA5412232

Gene: PHYH

Linked Data

• dbSNP Id: rs375520706
• ExAC: 10:13325642 G / C
• gnomAD v2: 10-13325642-G-C
• gnomAD v4: 10-13283642-G-C
• MyVariant Identifiers: chr10:g.13325642G>C (hg19) ; chr10:g.13283642G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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