Canonical Allele Identifier: CA373443289
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429753T>C , CM000671.2:g.37429753T>C GRCh38
NC_000009.11:g.37429750T>C , CM000671.1:g.37429750T>C GRCh37
NC_000009.10:g.37419750T>C NCBI36
NG_008135.1:g.12044T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.515T>C MANE Select ENSP00000313432.6:p.Leu172Pro
ENST00000318158.10:c.515T>C ENSP00000313432.6:p.Leu172Pro
ENST00000377824.8:n.552T>C
ENST00000460882.5:n.542T>C
ENST00000480596.5:n.1216T>C
ENST00000491488.5:n.220T>C
ENST00000494290.1:c.86T>C ENSP00000432021.1:p.Leu29Pro
ENST00000497693.1:n.2048T>C
ENST00000607784.1:c.515T>C ENSP00000475569.1:p.Leu172Pro
NM_012203.1:c.515T>C NP_036335.1:p.Leu172Pro
XM_005251631.1:c.194T>C XP_005251688.1:p.Leu65Pro
XM_011518073.1:c.113T>C XP_011516375.1:p.Leu38Pro
XR_929374.1:n.960T>C
XM_017015320.2:c.515T>C XP_016870809.1:p.Leu172Pro
XM_017015321.2:c.515T>C XP_016870810.1:p.Leu172Pro
XM_017015323.2:c.113T>C XP_016870812.1:p.Leu38Pro
XM_024447716.1:c.788T>C XP_024303484.1:p.Leu263Pro
XM_024447717.1:c.788T>C XP_024303485.1:p.Leu263Pro
XR_002956828.1:n.803T>C
XR_002956829.1:n.803T>C
XR_002956830.1:n.574T>C
XR_002956831.1:n.249T>C
XR_002956832.1:n.934T>C
NM_012203.2:c.515T>C MANE Select NP_036335.1:p.Leu172Pro