Canonical Allele Identifier: CA373442600
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426628G>T , CM000671.2:g.37426628G>T GRCh38
NC_000009.11:g.37426625G>T , CM000671.1:g.37426625G>T GRCh37
NC_000009.10:g.37416625G>T NCBI36
NG_008135.1:g.8919G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.378G>T MANE Select ENSP00000313432.6:p.Leu126Phe
ENST00000318158.10:c.378G>T ENSP00000313432.6:p.Leu126Phe
ENST00000377824.8:n.415G>T
ENST00000460882.5:n.405G>T
ENST00000487399.5:n.930G>T
ENST00000491488.5:n.110-1856G>T
ENST00000493368.5:n.435G>T
ENST00000607784.1:c.378G>T ENSP00000475569.1:p.Leu126Phe
NM_012203.1:c.378G>T NP_036335.1:p.Leu126Phe
XM_005251631.1:c.84-1856G>T XP_005251688.1:n.84-1856G>T
XM_011518073.1:c.-385G>T XP_011516375.1:n.-385G>T
XR_929374.1:n.463G>T
XM_017015320.2:c.378G>T XP_016870809.1:p.Leu126Phe
XM_017015321.2:c.378G>T XP_016870810.1:p.Leu126Phe
XM_017015323.2:c.-385G>T XP_016870812.1:n.-385G>T
XM_024447716.1:c.651G>T XP_024303484.1:p.Leu217Phe
XM_024447717.1:c.651G>T XP_024303485.1:p.Leu217Phe
XR_002956828.1:n.666G>T
XR_002956829.1:n.666G>T
XR_002956830.1:n.437G>T
XR_002956831.1:n.139-1856G>T
XR_002956832.1:n.437G>T
NM_012203.2:c.378G>T MANE Select NP_036335.1:p.Leu126Phe