Canonical Allele Identifier: CA694105

Gene: RHD RSRP1

Linked Data

• dbSNP Id: rs770041890
• ExAC: 1:25628093 C / A
• gnomAD v2: 1-25628093-C-A
• gnomAD v4: 1-25301602-C-A
• MyVariant Identifiers: chr1:g.25628093C>A (hg19) ; chr1:g.25301602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25301602C>A , CM000663.2:g.25301602C>A	GRCh38
NC_000001.10:g.25628093C>A , CM000663.1:g.25628093C>A	GRCh37
NC_000001.9:g.25500680C>A	NCBI36
NG_007494.1:g.34113C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328664.9:c.717C>A (RHD) MANE Select	ENSP00000331871.4:p.Phe239Leu
ENST00000648012.1:c.717C>A (RHD)	ENSP00000498055.1:p.Phe239Leu
ENST00000328664.8:c.717C>A (RHD)	ENSP00000331871.4:p.Phe239Leu
ENST00000342055.9:c.717C>A (RHD)	ENSP00000339577.5:p.Phe239Leu
ENST00000357542.8:c.717C>A (RHD)	ENSP00000350150.4:p.Phe239Leu
ENST00000417538.6:c.717C>A (RHD)	ENSP00000396420.2:p.Phe239Leu
ENST00000423253.1:n.717C>A (RHD)
ENST00000423810.6:c.717C>A (RHD)	ENSP00000399640.2:p.Phe239Leu
ENST00000454452.6:c.717C>A (RHD)	ENSP00000413849.2:p.Phe239Leu
ENST00000473314.6:c.-67+35438G>T (RSRP1)	ENSP00000457582.1:n.-67+35438G>T
ENST00000561867.1:c.-67+36376G>T (RSRP1)	ENSP00000456995.1:n.-67+36376G>T
ENST00000564398.5:n.872C>A (RHD)
ENST00000568195.5:c.717C>A (RHD)	ENSP00000456966.1:p.Phe239Leu
ENST00000568996.1:c.-67+36467G>T (RSRP1)	ENSP00000458042.1:n.-67+36467G>T
ENST00000615607.1:c.717C>A (RHD)	ENSP00000480925.1:p.Phe239Leu
ENST00000622561.4:c.717C>A (RHD)	ENSP00000478087.1:p.Phe239Leu
NM_001127691.2:c.717C>A (RHD)	NP_001121163.1:p.Phe239Leu
NM_001282867.1:c.219C>A (RHD)	NP_001269796.1:p.Phe73Leu
NM_001282868.1:c.717C>A (RHD)	NP_001269797.1:p.Phe239Leu
NM_001282869.1:c.717C>A (RHD)	NP_001269798.1:p.Phe239Leu
NM_001282870.1:c.717C>A (RHD)	NP_001269799.1:p.Phe239Leu
NM_001282871.1:c.717C>A (RHD)	NP_001269800.1:p.Phe239Leu
NM_001282872.1:c.717C>A (RHD)	NP_001269801.1:p.Phe239Leu
NM_016124.4:c.717C>A (RHD)	NP_057208.2:p.Phe239Leu
XM_011541892.1:c.717C>A (RHD)	XP_011540194.1:p.Phe239Leu
XR_946734.1:n.872C>A (RHD)
XR_946735.1:n.872C>A (RHD)
XR_946736.1:n.872C>A (RHD)
XR_946737.1:n.872C>A (RHD)
XR_947098.1:n.144-9834G>T
NM_001321772.1:c.-67+35438G>T (RSRP1)	NP_001308701.1:n.-67+35438G>T
NR_135787.1:n.1215+35438G>T (RSRP1)
NR_135788.1:n.277+36376G>T (RSRP1)
NR_135789.1:n.1215+35438G>T (RSRP1)
XM_017002015.1:c.717C>A (RHD)	XP_016857504.1:p.Phe239Leu
XR_946737.2:n.872C>A (RHD)
NM_001127691.3:c.717C>A (RHD)	NP_001121163.1:p.Phe239Leu
NM_001282869.2:c.717C>A (RHD)	NP_001269798.1:p.Phe239Leu
NM_001282871.2:c.717C>A (RHD)	NP_001269800.1:p.Phe239Leu
NM_001321772.2:c.-67+35438G>T (RSRP1)	NP_001308701.1:n.-67+35438G>T
NM_016124.5:c.-4294966540C>A
NR_135787.2:n.1215+35438G>T (RSRP1)
NR_135788.2:n.277+36376G>T (RSRP1)
NR_135789.2:n.1215+35438G>T (RSRP1)
NM_016124.6:c.717C>A (RHD) MANE Select	NP_057208.3:p.Phe239Leu