Canonical Allele Identifier: CA969784225
Gene: SCG3 HGNC NCBI

Linked Data

dbSNP Id: rs74724388
gnomAD v3: 15-51682053-A-C
gnomAD v4: 15-51682053-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51682053A>C , CM000677.2:g.51682053A>C GRCh38
NC_000015.9:g.51974250A>C , CM000677.1:g.51974250A>C GRCh37
NC_000015.8:g.49761542A>C NCBI36
NG_013214.1:g.5701A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000220478.8:c.82+216A>C MANE Select ENSP00000220478.3:n.82+216A>C
ENST00000220478.7:c.82+216A>C ENSP00000220478.3:n.82+216A>C
ENST00000542355.6:c.-562+216A>C ENSP00000445205.2:n.-562+216A>C
ENST00000558709.1:c.-419+216A>C ENSP00000452745.1:n.-419+216A>C
NM_001165257.1:c.-562+216A>C NP_001158729.1:n.-562+216A>C
NM_013243.3:c.82+216A>C NP_037375.2:n.82+216A>C
NM_013243.4:c.82+216A>C MANE Select NP_037375.2:n.82+216A>C
NM_001165257.2:c.-562+216A>C NP_001158729.1:n.-562+216A>C
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