Canonical Allele Identifier: CA875818717
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs1371846851
gnomAD v4: X-47573100-C-T
MyVariant Identifiers: chrX:g.47432499C>T (hg19) chrX:g.47573100C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47573100C>T , CM000685.2:g.47573100C>T GRCh38
NC_000023.10:g.47432499C>T , CM000685.1:g.47432499C>T GRCh37
NC_000023.9:g.47317443C>T NCBI36
NG_008437.1:g.51758G>A
NG_016339.1:g.16984C>T
NG_016339.2:g.16984C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1983-101G>A MANE Select ENSP00000295987.7:n.1983-101G>A
ENST00000340666.5:c.1983-139G>A ENSP00000343206.4:n.1983-139G>A
ENST00000640721.1:c.71-139G>A ENSP00000492857.1:n.71-139G>A
ENST00000295987.11:c.1983-101G>A ENSP00000295987.7:n.1983-101G>A
ENST00000340666.4:c.1983-139G>A ENSP00000343206.4:n.1983-139G>A
NM_006950.3:c.1983-101G>A MANE Select NP_008881.2:n.1983-101G>A
NM_133499.2:c.1983-139G>A NP_598006.1:n.1983-139G>A
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