Canonical Allele Identifier: CA346684954

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44313926C>G , CM000664.2:g.44313926C>G	GRCh38
NC_000002.11:g.44541065C>G , CM000664.1:g.44541065C>G	GRCh37
NC_000002.10:g.44394569C>G	NCBI36
NG_008233.1:g.43469C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.1592C>G MANE Select	NP_000332.2:p.Ser531Ter
ENST00000260649.11:c.1592C>G MANE Select	ENSP00000260649.6:p.Ser531Ter
NM_000341.3:c.1592C>G	NP_000332.2:p.Ser531Ter
ENST00000260649.10:c.1592C>G	ENSP00000260649.6:p.Ser531Ter
ENST00000409229.7:c.1592C>G	ENSP00000386620.3:p.Ser531Ter
ENST00000409294.5:c.452C>G	ENSP00000386852.1:p.Ser151Ter
ENST00000409380.5:c.758C>G	ENSP00000386709.1:p.Ser253Ter
ENST00000409387.5:c.1592C>G	ENSP00000387308.1:p.Ser531Ter
ENST00000409740.3:c.485C>G	ENSP00000386677.3:p.Ser162Ter
ENST00000611973.4:c.1592C>G	ENSP00000483618.1:p.Ser531Ter
ENST00000649044.1:c.*1603C>G	ENSP00000497083.1:n.*1603C>G
XM_011533047.1:c.1592C>G	XP_011531349.1:p.Ser531Ter
XM_011533047.3:c.1592C>G	XP_011531349.1:p.Ser531Ter