Canonical Allele Identifier: CA2693585334
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574796-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574796A>G , CM000685.2:g.47574796A>G GRCh38
NC_000023.10:g.47434195A>G , CM000685.1:g.47434195A>G GRCh37
NC_000023.9:g.47319139A>G NCBI36
NG_008437.1:g.50062T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1306-21T>C MANE Select ENSP00000295987.7:n.1306-21T>C
ENST00000340666.5:c.1306-21T>C ENSP00000343206.4:n.1306-21T>C
ENST00000295987.11:c.1306-21T>C ENSP00000295987.7:n.1306-21T>C
ENST00000340666.4:c.1306-21T>C ENSP00000343206.4:n.1306-21T>C
NM_006950.3:c.1306-21T>C MANE Select NP_008881.2:n.1306-21T>C
NM_133499.2:c.1306-21T>C NP_598006.1:n.1306-21T>C
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