Canonical Allele Identifier: CA1640169

Gene: SLC3A1

Linked Data

• ClinVar Variation Id: 336192
• ClinVar RCV Id: RCV000326268
• dbSNP Id: rs534054965
• ExAC: 2:44507996 A / G
• gnomAD v2: 2-44507996-A-G
• gnomAD v3: 2-44280857-A-G
• gnomAD v4: 2-44280857-A-G
• MyVariant Identifiers: chr2:g.44507996A>G (hg19) ; chr2:g.44280857A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44280857A>G , CM000664.2:g.44280857A>G	GRCh38
NC_000002.11:g.44507996A>G , CM000664.1:g.44507996A>G	GRCh37
NC_000002.10:g.44361500A>G	NCBI36
NG_008233.1:g.10400A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260649.11:c.572A>G MANE Select	ENSP00000260649.6:p.Glu191Gly
ENST00000649044.1:c.*583A>G	ENSP00000497083.1:n.*583A>G
ENST00000260649.10:c.572A>G	ENSP00000260649.6:p.Glu191Gly
ENST00000409229.7:c.572A>G	ENSP00000386620.3:p.Glu191Gly
ENST00000409387.5:c.572A>G	ENSP00000387308.1:p.Glu191Gly
ENST00000409741.5:c.572A>G	ENSP00000386954.1:p.Glu191Gly
ENST00000410056.7:c.572A>G	ENSP00000387337.3:p.Glu191Gly
ENST00000611973.4:c.572A>G	ENSP00000483618.1:p.Glu191Gly
NM_000341.3:c.572A>G	NP_000332.2:p.Glu191Gly
XM_011533047.1:c.572A>G	XP_011531349.1:p.Glu191Gly
XM_011533047.3:c.572A>G	XP_011531349.1:p.Glu191Gly
NM_000341.4:c.572A>G MANE Select	NP_000332.2:p.Glu191Gly