Canonical Allele Identifier: CA465004077
Gene: GRHPR HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.37429751G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429754G>C , CM000671.2:g.37429754G>C GRCh38
NC_000009.11:g.37429751G>C , CM000671.1:g.37429751G>C GRCh37
NC_000009.10:g.37419751G>C NCBI36
NG_008135.1:g.12045G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.516G>C MANE Select ENSP00000313432.6:p.Leu172=
ENST00000318158.10:c.516G>C ENSP00000313432.6:p.Leu172=
ENST00000377824.8:n.553G>C
ENST00000460882.5:n.543G>C
ENST00000480596.5:n.1217G>C
ENST00000491488.5:n.221G>C
ENST00000494290.1:c.87G>C ENSP00000432021.1:p.Leu29=
ENST00000497693.1:n.2049G>C
ENST00000607784.1:c.516G>C ENSP00000475569.1:p.Leu172=
NM_012203.1:c.516G>C NP_036335.1:p.Leu172=
XM_005251631.1:c.195G>C XP_005251688.1:p.Leu65=
XM_011518073.1:c.114G>C XP_011516375.1:p.Leu38=
XR_929374.1:n.961G>C
XM_017015320.2:c.516G>C XP_016870809.1:p.Leu172=
XM_017015321.2:c.516G>C XP_016870810.1:p.Leu172=
XM_017015323.2:c.114G>C XP_016870812.1:p.Leu38=
XM_024447716.1:c.789G>C XP_024303484.1:p.Leu263=
XM_024447717.1:c.789G>C XP_024303485.1:p.Leu263=
XR_002956828.1:n.804G>C
XR_002956829.1:n.804G>C
XR_002956830.1:n.575G>C
XR_002956831.1:n.250G>C
XR_002956832.1:n.935G>C
NM_012203.2:c.516G>C MANE Select NP_036335.1:p.Leu172=