Canonical Allele Identifier: CA346684324

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44312619C>A , CM000664.2:g.44312619C>A	GRCh38
NC_000002.11:g.44539758C>A , CM000664.1:g.44539758C>A	GRCh37
NC_000002.10:g.44393262C>A	NCBI36
NG_008233.1:g.42162C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.1366C>A MANE Select	NP_000332.2:p.Arg456Ser
ENST00000260649.11:c.1366C>A MANE Select	ENSP00000260649.6:p.Arg456Ser
NM_000341.3:c.1366C>A	NP_000332.2:p.Arg456Ser
ENST00000260649.10:c.1366C>A	ENSP00000260649.6:p.Arg456Ser
ENST00000409229.7:c.1366C>A	ENSP00000386620.3:p.Arg456Ser
ENST00000409294.5:c.226C>A	ENSP00000386852.1:p.Arg76Ser
ENST00000409380.5:c.532C>A	ENSP00000386709.1:p.Arg178Ser
ENST00000409387.5:c.1366C>A	ENSP00000387308.1:p.Arg456Ser
ENST00000409740.3:c.259C>A	ENSP00000386677.3:p.Arg87Ser
ENST00000409741.5:c.1366C>A	ENSP00000386954.1:p.Arg456Ser
ENST00000611973.4:c.1366C>A	ENSP00000483618.1:p.Arg456Ser
ENST00000649044.1:c.*1377C>A	ENSP00000497083.1:n.*1377C>A
XM_011533047.1:c.1366C>A	XP_011531349.1:p.Arg456Ser
XM_011533047.3:c.1366C>A	XP_011531349.1:p.Arg456Ser