Canonical Allele Identifier: CA339060812

Gene: RHD RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25628101A>C (hg19) ; chr1:g.25301610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25301610A>C , CM000663.2:g.25301610A>C	GRCh38
NC_000001.10:g.25628101A>C , CM000663.1:g.25628101A>C	GRCh37
NC_000001.9:g.25500688A>C	NCBI36
NG_007494.1:g.34121A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328664.9:c.725A>C (RHD) MANE Select	ENSP00000331871.4:p.Tyr242Ser
ENST00000648012.1:c.725A>C (RHD)	ENSP00000498055.1:p.Tyr242Ser
ENST00000328664.8:c.725A>C (RHD)	ENSP00000331871.4:p.Tyr242Ser
ENST00000342055.9:c.725A>C (RHD)	ENSP00000339577.5:p.Tyr242Ser
ENST00000357542.8:c.725A>C (RHD)	ENSP00000350150.4:p.Tyr242Ser
ENST00000417538.6:c.725A>C (RHD)	ENSP00000396420.2:p.Tyr242Ser
ENST00000423253.1:n.725A>C (RHD)
ENST00000423810.6:c.725A>C (RHD)	ENSP00000399640.2:p.Tyr242Ser
ENST00000454452.6:c.725A>C (RHD)	ENSP00000413849.2:p.Tyr242Ser
ENST00000473314.6:c.-67+35430T>G (RSRP1)	ENSP00000457582.1:n.-67+35430T>G
ENST00000561867.1:c.-67+36368T>G (RSRP1)	ENSP00000456995.1:n.-67+36368T>G
ENST00000564398.5:n.880A>C (RHD)
ENST00000568195.5:c.725A>C (RHD)	ENSP00000456966.1:p.Tyr242Ser
ENST00000568996.1:c.-67+36459T>G (RSRP1)	ENSP00000458042.1:n.-67+36459T>G
ENST00000615607.1:c.725A>C (RHD)	ENSP00000480925.1:p.Tyr242Ser
ENST00000622561.4:c.725A>C (RHD)	ENSP00000478087.1:p.Tyr242Ser
NM_001127691.2:c.725A>C (RHD)	NP_001121163.1:p.Tyr242Ser
NM_001282867.1:c.227A>C (RHD)	NP_001269796.1:p.Tyr76Ser
NM_001282868.1:c.725A>C (RHD)	NP_001269797.1:p.Tyr242Ser
NM_001282869.1:c.725A>C (RHD)	NP_001269798.1:p.Tyr242Ser
NM_001282870.1:c.725A>C (RHD)	NP_001269799.1:p.Tyr242Ser
NM_001282871.1:c.725A>C (RHD)	NP_001269800.1:p.Tyr242Ser
NM_001282872.1:c.725A>C (RHD)	NP_001269801.1:p.Tyr242Ser
NM_016124.4:c.725A>C (RHD)	NP_057208.2:p.Tyr242Ser
XM_011541892.1:c.725A>C (RHD)	XP_011540194.1:p.Tyr242Ser
XR_946734.1:n.880A>C (RHD)
XR_946735.1:n.880A>C (RHD)
XR_946736.1:n.880A>C (RHD)
XR_946737.1:n.880A>C (RHD)
XR_947098.1:n.144-9842T>G
NM_001321772.1:c.-67+35430T>G (RSRP1)	NP_001308701.1:n.-67+35430T>G
NR_135787.1:n.1215+35430T>G (RSRP1)
NR_135788.1:n.277+36368T>G (RSRP1)
NR_135789.1:n.1215+35430T>G (RSRP1)
XM_017002015.1:c.725A>C (RHD)	XP_016857504.1:p.Tyr242Ser
XR_946737.2:n.880A>C (RHD)
NM_001127691.3:c.725A>C (RHD)	NP_001121163.1:p.Tyr242Ser
NM_001282869.2:c.725A>C (RHD)	NP_001269798.1:p.Tyr242Ser
NM_001282871.2:c.725A>C (RHD)	NP_001269800.1:p.Tyr242Ser
NM_001321772.2:c.-67+35430T>G (RSRP1)	NP_001308701.1:n.-67+35430T>G
NM_016124.5:c.-4294966532A>C
NR_135787.2:n.1215+35430T>G (RSRP1)
NR_135788.2:n.277+36368T>G (RSRP1)
NR_135789.2:n.1215+35430T>G (RSRP1)
NM_016124.6:c.725A>C (RHD) MANE Select	NP_057208.3:p.Tyr242Ser