Canonical Allele Identifier: CA388452895

Gene: EDNRB

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77918405C>G , CM000675.2:g.77918405C>G	GRCh38
NC_000013.10:g.78492540C>G , CM000675.1:g.78492540C>G	GRCh37
NC_000013.9:g.77390541C>G	NCBI36
NG_011630.2:g.62125G>C
NG_011630.3:g.61319G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001122659.3:c.169G>C MANE Select	NP_001116131.1:p.Gly57Arg
ENST00000646607.2:c.169G>C MANE Select	ENSP00000493527.1:p.Gly57Arg
NM_000115.3:c.169G>C	NP_000106.1:p.Gly57Arg
NM_000115.4:c.169G>C	NP_000106.1:p.Gly57Arg
NM_000115.5:c.169G>C	NP_000106.1:p.Gly57Arg
NM_001122659.2:c.169G>C	NP_001116131.1:p.Gly57Arg
NM_001201397.1:c.439G>C	NP_001188326.1:p.Gly147Arg
NM_003991.3:c.169G>C	NP_003982.1:p.Gly57Arg
NM_003991.4:c.169G>C	NP_003982.1:p.Gly57Arg
ENST00000334286.7:c.169G>C	ENSP00000335311.5:p.Gly57Arg
ENST00000377211.8:c.439G>C	ENSP00000366416.4:p.Gly147Arg
ENST00000475537.1:c.169G>C	ENSP00000487082.1:p.Gly57Arg
ENST00000475537.2:c.169G>C	ENSP00000487082.2:p.Gly57Arg
ENST00000626030.1:c.169G>C	ENSP00000486202.1:p.Gly57Arg
ENST00000643890.1:c.169G>C	ENSP00000495815.1:p.Gly57Arg
ENST00000646605.1:c.169G>C	ENSP00000494278.1:p.Gly57Arg
ENST00000646948.1:c.169G>C	ENSP00000493895.1:p.Gly57Arg
XM_005266275.2:c.169G>C	XP_005266332.2:p.Gly57Arg
XM_011534949.1:c.169G>C	XP_011533251.1:p.Gly57Arg