Canonical Allele Identifier: CA257561

Gene: EDNRB

Linked Data

• ClinVar Variation Id: 16637
• ClinVar RCV Id: RCV000018117 ; RCV000216329 ; RCV000224294
• dbSNP Id: rs1801710
• ExAC: 13:78492540 C / T
• gnomAD v2: 13-78492540-C-T
• gnomAD v3: 13-77918405-C-T
• gnomAD v4: 13-77918405-C-T
• MyVariant Identifiers: chr13:g.78492540C>T (hg19) ; chr13:g.77918405C>T (hg38)
• PubMed: PMID:8001158 ; PMID:9359036 ; PMID:9760196

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475537.2:c.169G>A	ENSP00000487082.2:p.Gly57Ser
ENST00000643890.1:c.169G>A	ENSP00000495815.1:p.Gly57Ser
ENST00000646605.1:c.169G>A	ENSP00000494278.1:p.Gly57Ser
ENST00000646607.2:c.169G>A MANE Select	ENSP00000493527.1:p.Gly57Ser
ENST00000646948.1:c.169G>A	ENSP00000493895.1:p.Gly57Ser
ENST00000334286.7:c.169G>A	ENSP00000335311.5:p.Gly57Ser
ENST00000377211.8:c.439G>A	ENSP00000366416.4:p.Gly147Ser
ENST00000475537.1:c.169G>A	ENSP00000487082.1:p.Gly57Ser
ENST00000626030.1:c.169G>A	ENSP00000486202.1:p.Gly57Ser
NM_000115.3:c.169G>A	NP_000106.1:p.Gly57Ser
NM_001122659.2:c.169G>A	NP_001116131.1:p.Gly57Ser
NM_001201397.1:c.439G>A	NP_001188326.1:p.Gly147Ser
NM_003991.3:c.169G>A	NP_003982.1:p.Gly57Ser
XM_005266275.2:c.169G>A	XP_005266332.2:p.Gly57Ser
XM_011534949.1:c.169G>A	XP_011533251.1:p.Gly57Ser
NM_000115.4:c.169G>A	NP_000106.1:p.Gly57Ser
NM_001122659.3:c.169G>A MANE Select	NP_001116131.1:p.Gly57Ser
NM_000115.5:c.169G>A	NP_000106.1:p.Gly57Ser
NM_003991.4:c.169G>A	NP_003982.1:p.Gly57Ser