Canonical Allele Identifier: CA5059113

Gene: GRHPR

Linked Data

• dbSNP Id: rs752042907
• ExAC: 9:37429659 CCAGAAATG / C
• gnomAD v2: 9-37429659-CCAGAAATG-C
• MyVariant Identifiers: chr9:g.37429660_37429667del (hg19) ; chr9:g.37429663_37429670del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429664_37429671del , CM000671.2:g.37429664_37429671del	GRCh38
NC_000009.11:g.37429661_37429668del , CM000671.1:g.37429661_37429668del	GRCh37
NC_000009.10:g.37419661_37419668del	NCBI36
NG_008135.1:g.11955_11962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.494-68_494-61del MANE Select	ENSP00000313432.6:n.494-68_494-61del
ENST00000318158.10:c.494-68_494-61del	ENSP00000313432.6:n.494-68_494-61del
ENST00000377824.8:n.531-68_531-61del
ENST00000460882.5:n.521-68_521-61del
ENST00000480596.5:n.1127_1134del
ENST00000491488.5:n.199-68_199-61del
ENST00000494290.1:c.-4_4del
ENST00000497693.1:n.1959_1966del
ENST00000607784.1:c.494-68_494-61del	ENSP00000475569.1:n.494-68_494-61del
NM_012203.1:c.494-68_494-61del	NP_036335.1:n.494-68_494-61del
XM_005251631.1:c.173-68_173-61del	XP_005251688.1:n.173-68_173-61del
XM_011518073.1:c.92-68_92-61del	XP_011516375.1:n.92-68_92-61del
XR_929374.1:n.939-68_939-61del
XM_017015320.2:c.494-68_494-61del	XP_016870809.1:n.494-68_494-61del
XM_017015321.2:c.494-68_494-61del	XP_016870810.1:n.494-68_494-61del
XM_017015323.2:c.92-68_92-61del	XP_016870812.1:n.92-68_92-61del
XM_024447716.1:c.767-68_767-61del	XP_024303484.1:n.767-68_767-61del
XM_024447717.1:c.767-68_767-61del	XP_024303485.1:n.767-68_767-61del
XR_002956828.1:n.782-68_782-61del
XR_002956829.1:n.782-68_782-61del
XR_002956830.1:n.553-68_553-61del
XR_002956831.1:n.228-68_228-61del
XR_002956832.1:n.913-68_913-61del
NM_012203.2:c.494-68_494-61del MANE Select	NP_036335.1:n.494-68_494-61del