Canonical Allele Identifier: CA465003735
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37424896-A-G
MyVariant Identifiers: chr9:g.37424893A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424896A>G , CM000671.2:g.37424896A>G GRCh38
NC_000009.11:g.37424893A>G , CM000671.1:g.37424893A>G GRCh37
NC_000009.10:g.37414893A>G NCBI36
NG_008135.1:g.7187A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.135A>G MANE Select ENSP00000313432.6:p.Leu45=
ENST00000318158.10:c.135A>G ENSP00000313432.6:p.Leu45=
ENST00000377824.8:n.172A>G
ENST00000460882.5:n.162A>G
ENST00000487399.5:n.144A>G
ENST00000491488.5:n.109+2063A>G
ENST00000493368.5:n.192A>G
ENST00000607784.1:c.135A>G ENSP00000475569.1:p.Leu45=
NM_012203.1:c.135A>G NP_036335.1:p.Leu45=
XM_005251631.1:c.83+2063A>G XP_005251688.1:n.83+2063A>G
XM_011518073.1:c.-628A>G XP_011516375.1:n.-628A>G
XR_929374.1:n.220A>G
XM_017015320.2:c.135A>G XP_016870809.1:p.Leu45=
XM_017015321.2:c.135A>G XP_016870810.1:p.Leu45=
XM_017015323.2:c.-628A>G XP_016870812.1:n.-628A>G
XM_024447716.1:c.408A>G XP_024303484.1:p.Leu136=
XM_024447717.1:c.408A>G XP_024303485.1:p.Leu136=
XR_002956828.1:n.423A>G
XR_002956829.1:n.423A>G
XR_002956830.1:n.194A>G
XR_002956831.1:n.138+2063A>G
XR_002956832.1:n.194A>G
NM_012203.2:c.135A>G MANE Select NP_036335.1:p.Leu45=