Canonical Allele Identifier: CA373444369

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 592073
• ClinVar RCV Id: RCV000723259
• dbSNP Id: rs1284983653
• gnomAD v2: 9-37432018-A-T
• gnomAD v3: 9-37432021-A-T
• gnomAD v4: 9-37432021-A-T
• MyVariant Identifiers: chr9:g.37432018A>T (hg19) ; chr9:g.37432021A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432021A>T , CM000671.2:g.37432021A>T	GRCh38
NC_000009.11:g.37432018A>T , CM000671.1:g.37432018A>T	GRCh37
NC_000009.10:g.37422018A>T	NCBI36
NG_008135.1:g.14312A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.748A>T MANE Select	ENSP00000313432.6:p.Asn250Tyr
ENST00000318158.10:c.748A>T	ENSP00000313432.6:p.Asn250Tyr
ENST00000460882.5:n.775A>T
ENST00000480596.5:n.1449A>T
ENST00000482603.1:n.201A>T
ENST00000491488.5:n.453A>T
ENST00000494290.1:c.*51+870A>T	ENSP00000432021.1:n.*51+870A>T
ENST00000497693.1:n.4316A>T
ENST00000607784.1:c.748A>T	ENSP00000475569.1:p.Asn250Tyr
NM_012203.1:c.748A>T	NP_036335.1:p.Asn250Tyr
XM_005251631.1:c.427A>T	XP_005251688.1:p.Asn143Tyr
XM_011518073.1:c.346A>T	XP_011516375.1:p.Asn116Tyr
XM_017015320.2:c.748A>T	XP_016870809.1:p.Asn250Tyr
XM_017015321.2:c.748A>T	XP_016870810.1:p.Asn250Tyr
XM_017015323.2:c.346A>T	XP_016870812.1:p.Asn116Tyr
XM_024447716.1:c.1021A>T	XP_024303484.1:p.Asn341Tyr
XM_024447717.1:c.1021A>T	XP_024303485.1:p.Asn341Tyr
XR_002956828.1:n.1036A>T
XR_002956829.1:n.1036A>T
XR_002956830.1:n.2168A>T
XR_002956831.1:n.1843A>T
XR_002956832.1:n.1167A>T
NM_012203.2:c.748A>T MANE Select	NP_036335.1:p.Asn250Tyr