Canonical Allele Identifier: CA346683161

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44304326G>T , CM000664.2:g.44304326G>T	GRCh38
NC_000002.11:g.44531465G>T , CM000664.1:g.44531465G>T	GRCh37
NC_000002.10:g.44384969G>T	NCBI36
NG_008233.1:g.33869G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.1320G>T MANE Select	NP_000332.2:p.Trp440Cys
ENST00000260649.11:c.1320G>T MANE Select	ENSP00000260649.6:p.Trp440Cys
NM_000341.3:c.1320G>T	NP_000332.2:p.Trp440Cys
ENST00000260649.10:c.1320G>T	ENSP00000260649.6:p.Trp440Cys
ENST00000409229.7:c.1320G>T	ENSP00000386620.3:p.Trp440Cys
ENST00000409294.5:c.180G>T	ENSP00000386852.1:p.Trp60Cys
ENST00000409380.5:c.486G>T	ENSP00000386709.1:p.Trp162Cys
ENST00000409387.5:c.1320G>T	ENSP00000387308.1:p.Trp440Cys
ENST00000409740.3:c.213G>T	ENSP00000386677.3:p.Trp71Cys
ENST00000409741.5:c.1320G>T	ENSP00000386954.1:p.Trp440Cys
ENST00000611973.4:c.1320G>T	ENSP00000483618.1:p.Trp440Cys
ENST00000649044.1:c.*1331G>T	ENSP00000497083.1:n.*1331G>T
XM_011533047.1:c.1320G>T	XP_011531349.1:p.Trp440Cys
XM_011533047.3:c.1320G>T	XP_011531349.1:p.Trp440Cys