Canonical Allele Identifier: CA465004004

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37428560-C-T
• MyVariant Identifiers: chr9:g.37428557C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428560C>T , CM000671.2:g.37428560C>T	GRCh38
NC_000009.11:g.37428557C>T , CM000671.1:g.37428557C>T	GRCh37
NC_000009.10:g.37418557C>T	NCBI36
NG_008135.1:g.10851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.481C>T MANE Select	ENSP00000313432.6:p.Leu161=
ENST00000318158.10:c.481C>T	ENSP00000313432.6:p.Leu161=
ENST00000377824.8:n.518C>T
ENST00000460882.5:n.508C>T
ENST00000480596.5:n.23C>T
ENST00000491488.5:n.186C>T
ENST00000493368.5:n.538C>T
ENST00000497693.1:n.855C>T
ENST00000607784.1:c.481C>T	ENSP00000475569.1:p.Leu161=
NM_012203.1:c.481C>T	NP_036335.1:p.Leu161=
XM_005251631.1:c.160C>T	XP_005251688.1:p.Leu54=
XM_011518073.1:c.-282C>T	XP_011516375.1:n.-282C>T
XR_929374.1:n.566C>T
XM_017015320.2:c.481C>T	XP_016870809.1:p.Leu161=
XM_017015321.2:c.481C>T	XP_016870810.1:p.Leu161=
XM_017015323.2:c.-282C>T	XP_016870812.1:n.-282C>T
XM_024447716.1:c.754C>T	XP_024303484.1:p.Leu252=
XM_024447717.1:c.754C>T	XP_024303485.1:p.Leu252=
XR_002956828.1:n.769C>T
XR_002956829.1:n.769C>T
XR_002956830.1:n.540C>T
XR_002956831.1:n.215C>T
XR_002956832.1:n.540C>T
NM_012203.2:c.481C>T MANE Select	NP_036335.1:p.Leu161=