Canonical Allele Identifier: CA373442170
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425949T>A , CM000671.2:g.37425949T>A GRCh38
NC_000009.11:g.37425946T>A , CM000671.1:g.37425946T>A GRCh37
NC_000009.10:g.37415946T>A NCBI36
NG_008135.1:g.8240T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.242T>A MANE Select ENSP00000313432.6:p.Met81Lys
ENST00000318158.10:c.242T>A ENSP00000313432.6:p.Met81Lys
ENST00000377824.8:n.279T>A
ENST00000460882.5:n.269T>A
ENST00000487399.5:n.251T>A
ENST00000491488.5:n.110-2535T>A
ENST00000493368.5:n.299T>A
ENST00000607784.1:c.242T>A ENSP00000475569.1:p.Met81Lys
NM_012203.1:c.242T>A NP_036335.1:p.Met81Lys
XM_005251631.1:c.84-2535T>A XP_005251688.1:n.84-2535T>A
XM_011518073.1:c.-521T>A XP_011516375.1:n.-521T>A
XR_929374.1:n.327T>A
XM_017015320.2:c.242T>A XP_016870809.1:p.Met81Lys
XM_017015321.2:c.242T>A XP_016870810.1:p.Met81Lys
XM_017015323.2:c.-521T>A XP_016870812.1:n.-521T>A
XM_024447716.1:c.515T>A XP_024303484.1:p.Met172Lys
XM_024447717.1:c.515T>A XP_024303485.1:p.Met172Lys
XR_002956828.1:n.530T>A
XR_002956829.1:n.530T>A
XR_002956830.1:n.301T>A
XR_002956831.1:n.139-2535T>A
XR_002956832.1:n.301T>A
NM_012203.2:c.242T>A MANE Select NP_036335.1:p.Met81Lys