Canonical Allele Identifier: CA373445369
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1481841362
gnomAD v2: 9-37436699-A-T
gnomAD v4: 9-37436702-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436702A>T , CM000671.2:g.37436702A>T GRCh38
NC_000009.11:g.37436699A>T , CM000671.1:g.37436699A>T GRCh37
NC_000009.10:g.37426699A>T NCBI36
NG_008135.1:g.18993A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.907A>T MANE Select ENSP00000313432.6:p.Asn303Tyr
ENST00000318158.10:c.907A>T ENSP00000313432.6:p.Asn303Tyr
ENST00000460882.5:n.934A>T
ENST00000480596.5:n.1608A>T
ENST00000494290.1:c.*52-179A>T ENSP00000432021.1:n.*52-179A>T
ENST00000497693.1:n.4475A>T
NM_012203.1:c.907A>T NP_036335.1:p.Asn303Tyr
XM_005251631.1:c.586A>T XP_005251688.1:p.Asn196Tyr
XM_011518073.1:c.505A>T XP_011516375.1:p.Asn169Tyr
XM_017015320.2:c.946-709A>T XP_016870809.1:n.946-709A>T
XM_017015321.2:c.866-709A>T XP_016870810.1:n.866-709A>T
XM_017015323.2:c.544-709A>T XP_016870812.1:n.544-709A>T
XM_024447716.1:c.1219-709A>T XP_024303484.1:n.1219-709A>T
XM_024447717.1:c.1139-709A>T XP_024303485.1:n.1139-709A>T
XR_002956828.1:n.1234-709A>T
XR_002956829.1:n.1154-709A>T
XR_002956830.1:n.2327A>T
XR_002956831.1:n.2002A>T
XR_002956832.1:n.1326A>T
NM_012203.2:c.907A>T MANE Select NP_036335.1:p.Asn303Tyr