Canonical Allele Identifier: CA373443301

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37429754A>C (hg19) ; chr9:g.37429757A>C (hg38)

Genomic Alleles

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

Transcript Alleles

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