Canonical Allele Identifier: CA409758639

Gene:

Linked Data

• ClinVar Variation Id: 433140
• ClinVar RCV Id: RCV000656064
• dbSNP Id: rs1555841977
• MyVariant Identifiers: chr21:g.6116503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.6116503C>T , CM000683.2:g.6116503C>T	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613488.3:c.379C>T	ENSP00000482829.1:p.Arg127Trp
ENST00000613488.2:c.379C>T	ENSP00000482829.1:p.Arg127Trp
XM_006723920.2:c.379C>T	XP_006723983.1:p.Arg127Trp
NM_001320643.2:c.379C>T	NP_001307572.1:p.Arg127Trp
XM_017028208.1:c.379C>T	XP_016883697.1:p.Arg127Trp
NM_001320643.3:c.379C>T	NP_001307572.1:p.Arg127Trp