Canonical Allele Identifier: CA174548

Gene: ADAT1

Linked Data

• ClinVar Variation Id: 161660
• ClinVar RCV Id: RCV000149196
• dbSNP Id: rs193920811
• gnomAD v4: 16-75612612-G-C
• COSMIC: COSM1179352
• MyVariant Identifiers: chr16:g.75646510G>C (hg19) ; chr16:g.75612612G>C (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75612612G>C , CM000678.2:g.75612612G>C	GRCh38
NC_000016.9:g.75646510G>C , CM000678.1:g.75646510G>C	GRCh37
NC_000016.8:g.74204011G>C	NCBI36
NG_050747.1:g.15712C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000564657.2:c.674C>G MANE Select	ENSP00000457501.2:p.Pro225Arg
ENST00000307921.7:c.674C>G	ENSP00000310015.3:p.Pro225Arg
ENST00000566445.5:c.*420C>G	ENSP00000456768.1:n.*420C>G
NM_012091.3:c.674C>G	NP_036223.2:p.Pro225Arg
NR_036460.1:n.901C>G
NM_001324444.1:c.227C>G	NP_001311373.1:p.Pro76Arg
NM_001324445.1:c.674C>G	NP_001311374.1:p.Pro225Arg
NM_001324446.1:c.227C>G	NP_001311375.1:p.Pro76Arg
NM_001324448.1:c.674C>G	NP_001311377.1:p.Pro225Arg
NM_001324449.1:c.674C>G	NP_001311378.1:p.Pro225Arg
NM_001324450.1:c.227C>G	NP_001311379.1:p.Pro76Arg
NM_001324451.1:c.227C>G	NP_001311380.1:p.Pro76Arg
NM_001324452.1:c.413C>G	NP_001311381.1:p.Pro138Arg
NM_001324453.1:c.413C>G	NP_001311382.1:p.Pro138Arg
NM_012091.4:c.674C>G	NP_036223.2:p.Pro225Arg
NM_001324444.2:c.227C>G	NP_001311373.1:p.Pro76Arg
NM_001324445.2:c.674C>G MANE Select	NP_001311374.1:p.Pro225Arg
NM_001324446.2:c.227C>G	NP_001311375.1:p.Pro76Arg
NM_001324448.2:c.674C>G	NP_001311377.1:p.Pro225Arg
NM_001324449.2:c.674C>G	NP_001311378.1:p.Pro225Arg
NM_001324450.2:c.227C>G	NP_001311379.1:p.Pro76Arg
NM_001324451.2:c.227C>G	NP_001311380.1:p.Pro76Arg
NM_001324452.2:c.413C>G	NP_001311381.1:p.Pro138Arg
NM_001324453.2:c.413C>G	NP_001311382.1:p.Pro138Arg
NM_012091.5:c.674C>G	NP_036223.2:p.Pro225Arg