Canonical Allele Identifier: CA1640355

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44300090G>A , CM000664.2:g.44300090G>A	GRCh38
NC_000002.11:g.44527229G>A , CM000664.1:g.44527229G>A	GRCh37
NC_000002.10:g.44380733G>A	NCBI36
NG_008233.1:g.29633G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.1011G>A MANE Select	NP_000332.2:p.Pro337=
ENST00000260649.11:c.1011G>A MANE Select	ENSP00000260649.6:p.Pro337=
NM_000341.3:c.1011G>A	NP_000332.2:p.Pro337=
ENST00000260649.10:c.1011G>A	ENSP00000260649.6:p.Pro337=
ENST00000409229.7:c.1011G>A	ENSP00000386620.3:p.Pro337=
ENST00000409294.5:c.-5G>A	ENSP00000386852.1:n.-5G>A
ENST00000409380.5:c.177G>A	ENSP00000386709.1:p.Pro59=
ENST00000409387.5:c.1011G>A	ENSP00000387308.1:p.Pro337=
ENST00000409741.5:c.1011G>A	ENSP00000386954.1:p.Pro337=
ENST00000410056.7:c.1011G>A	ENSP00000387337.3:p.Pro337=
ENST00000427285.1:c.345G>A	ENSP00000391642.1:p.Pro115=
ENST00000611973.4:c.1011G>A	ENSP00000483618.1:p.Pro337=
ENST00000649044.1:c.*1022G>A	ENSP00000497083.1:n.*1022G>A
XM_011533047.1:c.1011G>A	XP_011531349.1:p.Pro337=
XM_011533047.3:c.1011G>A	XP_011531349.1:p.Pro337=