Canonical Allele Identifier: CA2351256
Gene: SLC6A20 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.45759885A>C
GRCh38 chr3:g.45759885_45759887delinsCGG
GRCh37 chr3:g.45801377A>C
GRCh37 chr3:g.45801377_45801379delinsCGG
Revel Score:
ENST00000353278 0.539
ENST00000358525 (MANE Select) 0.539
ENST00000456124 0.539
gnomAD v2:
3:45801377 A / C
gnomAD v4:
chr3-45759885-A-C
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV001358099
RCV002499721
ClinVar Variation:
1050543
dbSNP:
1553659698
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45759885A>C , CM000665.2:g.45759885A>C GRCh38
NC_000003.11:g.45801377A>C , CM000665.1:g.45801377A>C GRCh37
NC_000003.10:g.45776381A>C NCBI36
NG_023204.1:g.41659T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703343.1:c.1634T>G ENSP00000515266.1:p.Leu545Arg
ENST00000358525.9:c.1601T>G MANE Select ENSP00000346298.4:p.Leu534Arg
ENST00000353278.8:c.1490T>G ENSP00000296133.5:p.Leu497Arg
ENST00000358525.8:c.1601T>G ENSP00000346298.4:p.Leu534Arg
ENST00000456124.6:c.1601T>G ENSP00000404310.2:p.Leu534Arg
ENST00000473146.5:n.1789T>G
NM_020208.3:c.1601T>G NP_064593.1:p.Leu534Arg
NM_022405.3:c.1490T>G NP_071800.1:p.Leu497Arg
XM_005265236.2:c.1601T>G XP_005265293.1:p.Leu534Arg
XM_011533847.1:c.1304T>G XP_011532149.1:p.Leu435Arg
XM_011533847.2:c.1304T>G XP_011532149.1:p.Leu435Arg
NM_020208.4:c.1601T>G MANE Select NP_064593.1:p.Leu534Arg
NM_022405.4:c.1490T>G NP_071800.1:p.Leu497Arg
NM_001385683.1:c.1634T>G NP_001372612.1:p.Leu545Arg
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