Canonical Allele Identifier: CA412822117
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574057-C-T
MyVariant Identifiers: chrX:g.47433456C>T (hg19) chrX:g.47574057C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574057C>T , CM000685.2:g.47574057C>T GRCh38
NC_000023.10:g.47433456C>T , CM000685.1:g.47433456C>T GRCh37
NC_000023.9:g.47318400C>T NCBI36
NG_008437.1:g.50801G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1927G>A MANE Select ENSP00000295987.7:p.Asp643Asn
ENST00000340666.5:c.1927G>A ENSP00000343206.4:p.Asp643Asn
ENST00000640721.1:c.70+631G>A ENSP00000492857.1:n.70+631G>A
ENST00000295987.11:c.1927G>A ENSP00000295987.7:p.Asp643Asn
ENST00000340666.4:c.1927G>A ENSP00000343206.4:p.Asp643Asn
NM_006950.3:c.1927G>A MANE Select NP_008881.2:p.Asp643Asn
NM_133499.2:c.1927G>A NP_598006.1:p.Asp643Asn
Search 100 bp 5'
Search 100 bp 3'