Canonical Allele Identifier: CA2632804653
Gene: STX1B HGNC NCBI

Linked Data

gnomAD v4: 16-30993328-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993328T>C , CM000678.2:g.30993328T>C GRCh38
NC_000016.9:g.31004649T>C , CM000678.1:g.31004649T>C GRCh37
NC_000016.8:g.30912150T>C NCBI36
NG_041829.1:g.22181A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.675+19A>G MANE Select ENSP00000215095.5:n.675+19A>G
ENST00000565419.2:c.675+19A>G ENSP00000455899.1:n.675+19A>G
ENST00000215095.9:c.675+19A>G ENSP00000215095.5:n.675+19A>G
ENST00000565419.1:c.675+19A>G ENSP00000455899.1:n.675+19A>G
ENST00000569638.5:c.423+19A>G ENSP00000457067.1:n.423+19A>G
NM_052874.4:c.675+19A>G NP_443106.1:n.675+19A>G
XM_017022893.1:c.657+19A>G XP_016878382.1:n.657+19A>G
NM_052874.5:c.675+19A>G MANE Select NP_443106.1:n.675+19A>G
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