Canonical Allele Identifier: CA10618880

Gene: SLC6A20

Linked Data

• ClinVar Variation Id: 345370
• ClinVar RCV Id: RCV000332534
• dbSNP Id: rs535180634
• gnomAD v2: 3-45798943-T-C
• gnomAD v3: 3-45757451-T-C
• gnomAD v4: 3-45757451-T-C
• MyVariant Identifiers: chr3:g.45798943T>C (hg19) ; chr3:g.45757451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45757451T>C , CM000665.2:g.45757451T>C	GRCh38
NC_000003.11:g.45798943T>C , CM000665.1:g.45798943T>C	GRCh37
NC_000003.10:g.45773947T>C	NCBI36
NG_023204.1:g.44093A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358525.9:c.*1527A>G MANE Select	ENSP00000346298.4:n.*1527A>G
ENST00000353278.8:c.*1527A>G	ENSP00000296133.5:n.*1527A>G
ENST00000358525.8:c.*1527A>G	ENSP00000346298.4:n.*1527A>G
ENST00000456124.6:c.*200-693A>G	ENSP00000404310.2:n.*200-693A>G
NM_020208.3:c.*1527A>G	NP_064593.1:n.*1527A>G
NM_022405.3:c.*1527A>G	NP_071800.1:n.*1527A>G
XM_005265236.2:c.*986A>G	XP_005265293.1:n.*986A>G
XM_011533847.1:c.*1527A>G	XP_011532149.1:n.*1527A>G
XM_011533847.2:c.*1527A>G	XP_011532149.1:n.*1527A>G
NM_020208.4:c.*1527A>G MANE Select	NP_064593.1:n.*1527A>G
NM_022405.4:c.*1527A>G	NP_071800.1:n.*1527A>G
NM_001385683.1:c.*1527A>G	NP_001372612.1:n.*1527A>G