Canonical Allele Identifier: CA1640409

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44301085G>T , CM000664.2:g.44301085G>T	GRCh38
NC_000002.11:g.44528224G>T , CM000664.1:g.44528224G>T	GRCh37
NC_000002.10:g.44381728G>T	NCBI36
NG_008233.1:g.30628G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.1094G>T MANE Select	NP_000332.2:p.Arg365Leu
ENST00000260649.11:c.1094G>T MANE Select	ENSP00000260649.6:p.Arg365Leu
NM_000341.3:c.1094G>T	NP_000332.2:p.Arg365Leu
ENST00000260649.10:c.1094G>T	ENSP00000260649.6:p.Arg365Leu
ENST00000409229.7:c.1094G>T	ENSP00000386620.3:p.Arg365Leu
ENST00000409294.5:c.-5+995G>T	ENSP00000386852.1:n.-5+995G>T
ENST00000409380.5:c.260G>T	ENSP00000386709.1:p.Arg87Leu
ENST00000409387.5:c.1094G>T	ENSP00000387308.1:p.Arg365Leu
ENST00000409741.5:c.1094G>T	ENSP00000386954.1:p.Arg365Leu
ENST00000410056.7:c.1094G>T	ENSP00000387337.3:p.Arg365Leu
ENST00000427285.1:c.428G>T	ENSP00000391642.1:p.Arg143Leu
ENST00000611973.4:c.1094G>T	ENSP00000483618.1:p.Arg365Leu
ENST00000649044.1:c.*1105G>T	ENSP00000497083.1:n.*1105G>T
XM_011533047.1:c.1094G>T	XP_011531349.1:p.Arg365Leu
XM_011533047.3:c.1094G>T	XP_011531349.1:p.Arg365Leu