Canonical Allele Identifier: CA329046851
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs972025721
gnomAD v2: X-47447946-A-G
gnomAD v3: X-47588547-A-G
gnomAD v4: X-47588547-A-G
MyVariant Identifiers: chrX:g.47447946A>G (hg19) chrX:g.47588547A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47588547A>G , CM000685.2:g.47588547A>G GRCh38
NC_000023.10:g.47447946A>G , CM000685.1:g.47447946A>G GRCh37
NC_000023.9:g.47332890A>G NCBI36
NG_008437.1:g.36311T>C
NG_012533.1:g.11257A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.775-11046T>C MANE Select ENSP00000295987.7:n.775-11046T>C
ENST00000340666.5:c.775-11046T>C ENSP00000343206.4:n.775-11046T>C
ENST00000295987.11:c.775-11046T>C ENSP00000295987.7:n.775-11046T>C
ENST00000340666.4:c.775-11046T>C ENSP00000343206.4:n.775-11046T>C
NM_006950.3:c.775-11046T>C MANE Select NP_008881.2:n.775-11046T>C
NM_133499.2:c.775-11046T>C NP_598006.1:n.775-11046T>C
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