Canonical Allele Identifier: CA465006884
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37436779-G-T
MyVariant Identifiers: chr9:g.37436776G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436779G>T , CM000671.2:g.37436779G>T GRCh38
NC_000009.11:g.37436776G>T , CM000671.1:g.37436776G>T GRCh37
NC_000009.10:g.37426776G>T NCBI36
NG_008135.1:g.19070G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.984G>T MANE Select ENSP00000313432.6:p.Leu328=
ENST00000318158.10:c.984G>T ENSP00000313432.6:p.Leu328=
ENST00000460882.5:n.1011G>T
ENST00000480596.5:n.1685G>T
ENST00000494290.1:c.*52-102G>T ENSP00000432021.1:n.*52-102G>T
ENST00000497693.1:n.4552G>T
NM_012203.1:c.984G>T NP_036335.1:p.Leu328=
XM_005251631.1:c.663G>T XP_005251688.1:p.Leu221=
XM_011518073.1:c.582G>T XP_011516375.1:p.Leu194=
XM_017015320.2:c.946-632G>T XP_016870809.1:n.946-632G>T
XM_017015321.2:c.866-632G>T XP_016870810.1:n.866-632G>T
XM_017015323.2:c.544-632G>T XP_016870812.1:n.544-632G>T
XM_024447716.1:c.1219-632G>T XP_024303484.1:n.1219-632G>T
XM_024447717.1:c.1139-632G>T XP_024303485.1:n.1139-632G>T
XR_002956828.1:n.1234-632G>T
XR_002956829.1:n.1154-632G>T
XR_002956830.1:n.2404G>T
XR_002956831.1:n.2079G>T
XR_002956832.1:n.1403G>T
NM_012203.2:c.984G>T MANE Select NP_036335.1:p.Leu328=