Canonical Allele Identifier: CA346682528

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44304194C>G , CM000664.2:g.44304194C>G	GRCh38
NC_000002.11:g.44531333C>G , CM000664.1:g.44531333C>G	GRCh37
NC_000002.10:g.44384837C>G	NCBI36
NG_008233.1:g.33737C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.1188C>G MANE Select	NP_000332.2:p.Tyr396Ter
ENST00000260649.11:c.1188C>G MANE Select	ENSP00000260649.6:p.Tyr396Ter
NM_000341.3:c.1188C>G	NP_000332.2:p.Tyr396Ter
ENST00000260649.10:c.1188C>G	ENSP00000260649.6:p.Tyr396Ter
ENST00000409229.7:c.1188C>G	ENSP00000386620.3:p.Tyr396Ter
ENST00000409294.5:c.48C>G	ENSP00000386852.1:p.Tyr16Ter
ENST00000409380.5:c.354C>G	ENSP00000386709.1:p.Tyr118Ter
ENST00000409387.5:c.1188C>G	ENSP00000387308.1:p.Tyr396Ter
ENST00000409740.3:c.81C>G	ENSP00000386677.3:p.Tyr27Ter
ENST00000409741.5:c.1188C>G	ENSP00000386954.1:p.Tyr396Ter
ENST00000611973.4:c.1188C>G	ENSP00000483618.1:p.Tyr396Ter
ENST00000649044.1:c.*1199C>G	ENSP00000497083.1:n.*1199C>G
XM_011533047.1:c.1188C>G	XP_011531349.1:p.Tyr396Ter
XM_011533047.3:c.1188C>G	XP_011531349.1:p.Tyr396Ter