Canonical Allele Identifier: CA346689032

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44281396T>G , CM000664.2:g.44281396T>G	GRCh38
NC_000002.11:g.44508535T>G , CM000664.1:g.44508535T>G	GRCh37
NC_000002.10:g.44362039T>G	NCBI36
NG_008233.1:g.10939T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.620T>G MANE Select	NP_000332.2:p.Leu207Ter
ENST00000260649.11:c.620T>G MANE Select	ENSP00000260649.6:p.Leu207Ter
NM_000341.3:c.620T>G	NP_000332.2:p.Leu207Ter
ENST00000260649.10:c.620T>G	ENSP00000260649.6:p.Leu207Ter
ENST00000409229.7:c.620T>G	ENSP00000386620.3:p.Leu207Ter
ENST00000409387.5:c.620T>G	ENSP00000387308.1:p.Leu207Ter
ENST00000409741.5:c.620T>G	ENSP00000386954.1:p.Leu207Ter
ENST00000410056.7:c.620T>G	ENSP00000387337.3:p.Leu207Ter
ENST00000611973.4:c.620T>G	ENSP00000483618.1:p.Leu207Ter
ENST00000649044.1:c.*631T>G	ENSP00000497083.1:n.*631T>G
XM_011533047.1:c.620T>G	XP_011531349.1:p.Leu207Ter
XM_011533047.3:c.620T>G	XP_011531349.1:p.Leu207Ter