Canonical Allele Identifier: CA875819042
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs1458222412
gnomAD v3: X-47573990-G-C
gnomAD v4: X-47573990-G-C
MyVariant Identifiers: chrX:g.47433389G>C (hg19) chrX:g.47573990G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47573990G>C , CM000685.2:g.47573990G>C GRCh38
NC_000023.10:g.47433389G>C , CM000685.1:g.47433389G>C GRCh37
NC_000023.9:g.47318333G>C NCBI36
NG_008437.1:g.50868C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1982+12C>G MANE Select ENSP00000295987.7:n.1982+12C>G
ENST00000340666.5:c.1982+12C>G ENSP00000343206.4:n.1982+12C>G
ENST00000640721.1:c.70+698C>G ENSP00000492857.1:n.70+698C>G
ENST00000295987.11:c.1982+12C>G ENSP00000295987.7:n.1982+12C>G
ENST00000340666.4:c.1982+12C>G ENSP00000343206.4:n.1982+12C>G
NM_006950.3:c.1982+12C>G MANE Select NP_008881.2:n.1982+12C>G
NM_133499.2:c.1982+12C>G NP_598006.1:n.1982+12C>G
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