Canonical Allele Identifier: CA270568907

Gene: SCG3

Linked Data

• dbSNP Id: rs370730192
• gnomAD v2: 15-51974279-C-T
• gnomAD v3: 15-51682082-C-T
• gnomAD v4: 15-51682082-C-T
• MyVariant Identifiers: chr15:g.51974279C>T (hg19) ; chr15:g.51682082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51682082C>T , CM000677.2:g.51682082C>T	GRCh38
NC_000015.9:g.51974279C>T , CM000677.1:g.51974279C>T	GRCh37
NC_000015.8:g.49761571C>T	NCBI36
NG_013214.1:g.5730C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220478.8:c.82+245C>T MANE Select	ENSP00000220478.3:n.82+245C>T
ENST00000220478.7:c.82+245C>T	ENSP00000220478.3:n.82+245C>T
ENST00000542355.6:c.-562+245C>T	ENSP00000445205.2:n.-562+245C>T
ENST00000558709.1:c.-419+245C>T	ENSP00000452745.1:n.-419+245C>T
NM_001165257.1:c.-562+245C>T	NP_001158729.1:n.-562+245C>T
NM_013243.3:c.82+245C>T	NP_037375.2:n.82+245C>T
NM_013243.4:c.82+245C>T MANE Select	NP_037375.2:n.82+245C>T
NM_001165257.2:c.-562+245C>T	NP_001158729.1:n.-562+245C>T