Canonical Allele Identifier: CA186057

Gene: SCAMP4 ADAT3

Linked Data

• ClinVar Variation Id: 183301
• ClinVar RCV Id: RCV000162122 ; RCV000254727
• dbSNP Id: rs730882213
• gnomAD v2: 19-1912476-G-A
• gnomAD v3: 19-1912477-G-A
• gnomAD v4: 19-1912477-G-A
• MyVariant Identifiers: chr19:g.1912476G>A (hg19) ; chr19:g.1912477G>A (hg38)
• PubMed: PMID:23620220 ; PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1912477G>A , CM000681.2:g.1912477G>A	GRCh38
NC_000019.9:g.1912476G>A , CM000681.1:g.1912476G>A	GRCh37
NC_000019.8:g.1863476G>A	NCBI36
NG_051211.1:g.12264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409472.6:c.-41-2502G>A (SCAMP4)	ENSP00000386865.1:n.-41-2502G>A
ENST00000316097.13:c.-41-2502G>A (SCAMP4) MANE Select	ENSP00000316007.7:n.-41-2502G>A
ENST00000329478.4:c.430G>A (ADAT3) MANE Select	ENSP00000332448.2:p.Val144Met
ENST00000316097.12:c.-41-2502G>A (SCAMP4)	ENSP00000316007.7:n.-41-2502G>A
ENST00000329478.3:c.430G>A (ADAT3)	ENSP00000332448.2:p.Val144Met
ENST00000409472.5:c.-41-2502G>A (SCAMP4)	ENSP00000386865.1:n.-41-2502G>A
ENST00000411971.5:c.-41-2502G>A (SCAMP4)	ENSP00000388185.2:n.-41-2502G>A
ENST00000414057.6:c.-125-5217G>A (SCAMP4)	ENSP00000479672.1:n.-125-5217G>A
ENST00000452128.6:n.69-2502G>A (SCAMP4)
ENST00000460767.5:c.-41-2502G>A (SCAMP4)	ENSP00000481989.1:n.-41-2502G>A
ENST00000489554.1:n.42-2502G>A (SCAMP4)
ENST00000588907.2:c.-126+3842G>A (SCAMP4)	ENSP00000478264.1:n.-126+3842G>A
NM_079834.2:c.-41-2502G>A (SCAMP4)	NP_524558.1:n.-41-2502G>A
NM_138422.2:c.430G>A (ADAT3)	NP_612431.2:p.Val144Met
NM_001329533.1:c.382G>A (ADAT3)	NP_001316462.1:p.Val128Met
NM_001329539.1:c.-125-5217G>A (SCAMP4)	NP_001316468.1:n.-125-5217G>A
NM_001329540.1:c.-41-2502G>A (SCAMP4)	NP_001316469.1:n.-41-2502G>A
NM_079834.3:c.-41-2502G>A (SCAMP4)	NP_524558.1:n.-41-2502G>A
NM_138422.3:c.430G>A (ADAT3)	NP_612431.2:p.Val144Met
NM_079834.4:c.-41-2502G>A (SCAMP4) MANE Select	NP_524558.1:n.-41-2502G>A
NM_138422.4:c.430G>A (ADAT3) MANE Select	NP_612431.2:p.Val144Met
NM_001329533.2:c.382G>A (ADAT3)	NP_001316462.1:p.Val128Met
NM_001329539.2:c.-125-5217G>A (SCAMP4)	NP_001316468.1:n.-125-5217G>A
NM_001329540.2:c.-41-2502G>A (SCAMP4)	NP_001316469.1:n.-41-2502G>A