Canonical Allele Identifier: CA253049848

Gene: EDNRB

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77918076G>A , CM000675.2:g.77918076G>A	GRCh38
NC_000013.10:g.78492211G>A , CM000675.1:g.78492211G>A	GRCh37
NC_000013.9:g.77390212G>A	NCBI36
NG_011630.2:g.62454C>T
NG_011630.3:g.61648C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001122659.3:c.483+15C>T MANE Select	NP_001116131.1:n.483+15C>T
ENST00000646607.2:c.483+15C>T MANE Select	ENSP00000493527.1:n.483+15C>T
NM_000115.3:c.483+15C>T	NP_000106.1:n.483+15C>T
NM_000115.4:c.483+15C>T	NP_000106.1:n.483+15C>T
NM_000115.5:c.483+15C>T	NP_000106.1:n.483+15C>T
NM_001122659.2:c.483+15C>T	NP_001116131.1:n.483+15C>T
NM_001201397.1:c.753+15C>T	NP_001188326.1:n.753+15C>T
NM_003991.3:c.483+15C>T	NP_003982.1:n.483+15C>T
NM_003991.4:c.483+15C>T	NP_003982.1:n.483+15C>T
ENST00000334286.7:c.483+15C>T	ENSP00000335311.5:n.483+15C>T
ENST00000377211.8:c.753+15C>T	ENSP00000366416.4:n.753+15C>T
ENST00000475537.2:c.483+15C>T	ENSP00000487082.2:n.483+15C>T
ENST00000626030.1:c.483+15C>T	ENSP00000486202.1:n.483+15C>T
ENST00000643890.1:c.483+15C>T	ENSP00000495815.1:n.483+15C>T
ENST00000646605.1:c.483+15C>T	ENSP00000494278.1:n.483+15C>T
ENST00000646948.1:c.483+15C>T	ENSP00000493895.1:n.483+15C>T
XM_005266275.2:c.483+15C>T	XP_005266332.2:n.483+15C>T
XM_011534949.1:c.483+15C>T	XP_011533251.1:n.483+15C>T