Canonical Allele Identifier: CA412826585
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs2147913202
gnomAD v4: X-47576234-C-A
MyVariant Identifiers: chrX:g.47435633C>A (hg19) chrX:g.47576234C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47576234C>A , CM000685.2:g.47576234C>A GRCh38
NC_000023.10:g.47435633C>A , CM000685.1:g.47435633C>A GRCh37
NC_000023.9:g.47320577C>A NCBI36
NG_008437.1:g.48624G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.1056-1G>T MANE Select ENSP00000295987.7:n.1056-1G>T
ENST00000340666.5:c.1056-1G>T ENSP00000343206.4:n.1056-1G>T
ENST00000295987.11:c.1056-1G>T ENSP00000295987.7:n.1056-1G>T
ENST00000340666.4:c.1056-1G>T ENSP00000343206.4:n.1056-1G>T
NM_006950.3:c.1056-1G>T MANE Select NP_008881.2:n.1056-1G>T
NM_133499.2:c.1056-1G>T NP_598006.1:n.1056-1G>T
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