Canonical Allele Identifier: CA362857349
Gene: EDN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12296022G>C , CM000668.2:g.12296022G>C GRCh38
NC_000006.11:g.12296255G>C , CM000668.1:g.12296255G>C GRCh37
NC_000006.10:g.12404241G>C NCBI36
NG_016196.1:g.10727G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.594G>C MANE Select ENSP00000368683.5:p.Lys198Asn
ENST00000379375.5:c.594G>C ENSP00000368683.5:p.Lys198Asn
NM_001168319.1:c.591G>C NP_001161791.1:p.Lys197Asn
NM_001955.4:c.594G>C NP_001946.3:p.Lys198Asn
XM_011514330.1:c.594G>C XP_011512632.1:p.Lys198Asn
XM_011514331.1:c.594G>C XP_011512633.1:p.Lys198Asn
XM_011514332.1:c.591G>C XP_011512634.1:p.Lys197Asn
XM_011514330.2:c.594G>C XP_011512632.1:p.Lys198Asn
XM_011514331.3:c.594G>C XP_011512633.1:p.Lys198Asn
XM_011514332.2:c.591G>C XP_011512634.1:p.Lys197Asn
XM_017010331.1:c.594G>C XP_016865820.1:p.Lys198Asn
NM_001955.5:c.594G>C MANE Select NP_001946.3:p.Lys198Asn
NM_001168319.2:c.591G>C NP_001161791.1:p.Lys197Asn