Canonical Allele Identifier: CA388451409

Gene: EDNRB EDNRB-AS1

Linked Data

• ClinVar Variation Id: 1384514
• ClinVar RCV Id: RCV001897640
• dbSNP Id: rs2137611967
• MyVariant Identifiers: chr13:g.78477667T>G (hg19) ; chr13:g.77903532T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77903532T>G , CM000675.2:g.77903532T>G	GRCh38
NC_000013.10:g.78477667T>G , CM000675.1:g.78477667T>G	GRCh37
NC_000013.9:g.77375668T>G	NCBI36
NG_011630.2:g.76998A>C
NG_011630.3:g.76192A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475537.2:c.559A>C (EDNRB)	ENSP00000487082.2:p.Ile187Leu
ENST00000643890.1:c.559A>C (EDNRB)	ENSP00000495815.1:p.Ile187Leu
ENST00000645696.1:c.37A>C (EDNRB)	ENSP00000495984.1:p.Ile13Leu
ENST00000646605.1:c.559A>C (EDNRB)	ENSP00000494278.1:p.Ile187Leu
ENST00000646607.2:c.559A>C (EDNRB) MANE Select	ENSP00000493527.1:p.Ile187Leu
ENST00000646948.1:c.559A>C (EDNRB)	ENSP00000493895.1:p.Ile187Leu
ENST00000334286.7:c.559A>C (EDNRB)	ENSP00000335311.5:p.Ile187Leu
ENST00000377211.8:c.829A>C (EDNRB)	ENSP00000366416.4:p.Ile277Leu
ENST00000626030.1:c.559A>C (EDNRB)	ENSP00000486202.1:p.Ile187Leu
NM_000115.3:c.559A>C (EDNRB)	NP_000106.1:p.Ile187Leu
NM_001122659.2:c.559A>C (EDNRB)	NP_001116131.1:p.Ile187Leu
NM_001201397.1:c.829A>C (EDNRB)	NP_001188326.1:p.Ile277Leu
NM_003991.3:c.559A>C (EDNRB)	NP_003982.1:p.Ile187Leu
NR_103853.1:n.1695-4160T>G (EDNRB-AS1)
XM_005266275.2:c.559A>C (EDNRB)	XP_005266332.2:p.Ile187Leu
XM_011534949.1:c.559A>C (EDNRB)	XP_011533251.1:p.Ile187Leu
NM_000115.4:c.559A>C (EDNRB)	NP_000106.1:p.Ile187Leu
NM_001122659.3:c.559A>C (EDNRB) MANE Select	NP_001116131.1:p.Ile187Leu
NM_000115.5:c.559A>C (EDNRB)	NP_000106.1:p.Ile187Leu
NM_003991.4:c.559A>C (EDNRB)	NP_003982.1:p.Ile187Leu