Canonical Allele Identifier: CA388452125

Gene: EDNRB EDNRB-AS1

Linked Data

• gnomAD v4: 13-77901165-A-G
• MyVariant Identifiers: chr13:g.78475300A>G (hg19) ; chr13:g.77901165A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77901165A>G , CM000675.2:g.77901165A>G	GRCh38
NC_000013.10:g.78475300A>G , CM000675.1:g.78475300A>G	GRCh37
NC_000013.9:g.77373301A>G	NCBI36
NG_011630.2:g.79365T>C
NG_011630.3:g.78559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475537.2:c.844T>C (EDNRB)	ENSP00000487082.2:p.Phe282Leu
ENST00000643890.1:c.844T>C (EDNRB)	ENSP00000495815.1:p.Phe282Leu
ENST00000645696.1:c.322T>C (EDNRB)	ENSP00000495984.1:p.Phe108Leu
ENST00000646605.1:c.844T>C (EDNRB)	ENSP00000494278.1:p.Phe282Leu
ENST00000646607.2:c.844T>C (EDNRB) MANE Select	ENSP00000493527.1:p.Phe282Leu
ENST00000646948.1:c.844T>C (EDNRB)	ENSP00000493895.1:p.Phe282Leu
ENST00000334286.7:c.844T>C (EDNRB)	ENSP00000335311.5:p.Phe282Leu
ENST00000377211.8:c.1114T>C (EDNRB)	ENSP00000366416.4:p.Phe372Leu
ENST00000626030.1:c.844T>C (EDNRB)	ENSP00000486202.1:p.Phe282Leu
NM_000115.3:c.844T>C (EDNRB)	NP_000106.1:p.Phe282Leu
NM_001122659.2:c.844T>C (EDNRB)	NP_001116131.1:p.Phe282Leu
NM_001201397.1:c.1114T>C (EDNRB)	NP_001188326.1:p.Phe372Leu
NM_003991.3:c.844T>C (EDNRB)	NP_003982.1:p.Phe282Leu
NR_103853.1:n.1695-6527A>G (EDNRB-AS1)
XM_005266275.2:c.844T>C (EDNRB)	XP_005266332.2:p.Phe282Leu
XM_011534949.1:c.844T>C (EDNRB)	XP_011533251.1:p.Phe282Leu
NM_000115.4:c.844T>C (EDNRB)	NP_000106.1:p.Phe282Leu
NM_001122659.3:c.844T>C (EDNRB) MANE Select	NP_001116131.1:p.Phe282Leu
NM_000115.5:c.844T>C (EDNRB)	NP_000106.1:p.Phe282Leu
NM_003991.4:c.844T>C (EDNRB)	NP_003982.1:p.Phe282Leu