Canonical Allele Identifier: CA373443302
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429757A>T , CM000671.2:g.37429757A>T GRCh38
NC_000009.11:g.37429754A>T , CM000671.1:g.37429754A>T GRCh37
NC_000009.10:g.37419754A>T NCBI36
NG_008135.1:g.12048A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.519A>T MANE Select ENSP00000313432.6:p.Lys173Asn
ENST00000318158.10:c.519A>T ENSP00000313432.6:p.Lys173Asn
ENST00000377824.8:n.556A>T
ENST00000460882.5:n.546A>T
ENST00000480596.5:n.1220A>T
ENST00000491488.5:n.224A>T
ENST00000494290.1:c.90A>T ENSP00000432021.1:p.Lys30Asn
ENST00000497693.1:n.2052A>T
ENST00000607784.1:c.519A>T ENSP00000475569.1:p.Lys173Asn
NM_012203.1:c.519A>T NP_036335.1:p.Lys173Asn
XM_005251631.1:c.198A>T XP_005251688.1:p.Lys66Asn
XM_011518073.1:c.117A>T XP_011516375.1:p.Lys39Asn
XR_929374.1:n.964A>T
XM_017015320.2:c.519A>T XP_016870809.1:p.Lys173Asn
XM_017015321.2:c.519A>T XP_016870810.1:p.Lys173Asn
XM_017015323.2:c.117A>T XP_016870812.1:p.Lys39Asn
XM_024447716.1:c.792A>T XP_024303484.1:p.Lys264Asn
XM_024447717.1:c.792A>T XP_024303485.1:p.Lys264Asn
XR_002956828.1:n.807A>T
XR_002956829.1:n.807A>T
XR_002956830.1:n.578A>T
XR_002956831.1:n.253A>T
XR_002956832.1:n.938A>T
NM_012203.2:c.519A>T MANE Select NP_036335.1:p.Lys173Asn