Canonical Allele Identifier: CA2689984490
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37436512-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436512G>T , CM000671.2:g.37436512G>T GRCh38
NC_000009.11:g.37436509G>T , CM000671.1:g.37436509G>T GRCh37
NC_000009.10:g.37426509G>T NCBI36
NG_008135.1:g.18803G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.866-149G>T MANE Select ENSP00000313432.6:n.866-149G>T
ENST00000318158.10:c.866-149G>T ENSP00000313432.6:n.866-149G>T
ENST00000460882.5:n.893-149G>T
ENST00000480596.5:n.1567-149G>T
ENST00000491488.5:n.571-149G>T
ENST00000494290.1:c.*52-369G>T ENSP00000432021.1:n.*52-369G>T
ENST00000497693.1:n.4434-149G>T
NM_012203.1:c.866-149G>T NP_036335.1:n.866-149G>T
XM_005251631.1:c.545-149G>T XP_005251688.1:n.545-149G>T
XM_011518073.1:c.464-149G>T XP_011516375.1:n.464-149G>T
XM_017015320.2:c.946-899G>T XP_016870809.1:n.946-899G>T
XM_017015321.2:c.866-899G>T XP_016870810.1:n.866-899G>T
XM_017015323.2:c.544-899G>T XP_016870812.1:n.544-899G>T
XM_024447716.1:c.1219-899G>T XP_024303484.1:n.1219-899G>T
XM_024447717.1:c.1139-899G>T XP_024303485.1:n.1139-899G>T
XR_002956828.1:n.1234-899G>T
XR_002956829.1:n.1154-899G>T
XR_002956830.1:n.2286-149G>T
XR_002956831.1:n.1961-149G>T
XR_002956832.1:n.1285-149G>T
NM_012203.2:c.866-149G>T MANE Select NP_036335.1:n.866-149G>T