Canonical Allele Identifier: CA412822558
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574191-G-T
MyVariant Identifiers: chrX:g.47433590G>T (hg19) chrX:g.47574191G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574191G>T , CM000685.2:g.47574191G>T GRCh38
NC_000023.10:g.47433590G>T , CM000685.1:g.47433590G>T GRCh37
NC_000023.9:g.47318534G>T NCBI36
NG_008437.1:g.50667C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1793C>A MANE Select ENSP00000295987.7:p.Ala598Asp
ENST00000340666.5:c.1793C>A ENSP00000343206.4:p.Ala598Asp
ENST00000640721.1:c.70+497C>A ENSP00000492857.1:n.70+497C>A
ENST00000295987.11:c.1793C>A ENSP00000295987.7:p.Ala598Asp
ENST00000340666.4:c.1793C>A ENSP00000343206.4:p.Ala598Asp
NM_006950.3:c.1793C>A MANE Select NP_008881.2:p.Ala598Asp
NM_133499.2:c.1793C>A NP_598006.1:p.Ala598Asp
Search 100 bp 5'
Search 100 bp 3'