Canonical Allele Identifier: CA1640572

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44312634T>C , CM000664.2:g.44312634T>C	GRCh38
NC_000002.11:g.44539773T>C , CM000664.1:g.44539773T>C	GRCh37
NC_000002.10:g.44393277T>C	NCBI36
NG_008233.1:g.42177T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.1381T>C MANE Select	NP_000332.2:p.Tyr461His
ENST00000260649.11:c.1381T>C MANE Select	ENSP00000260649.6:p.Tyr461His
NM_000341.3:c.1381T>C	NP_000332.2:p.Tyr461His
ENST00000260649.10:c.1381T>C	ENSP00000260649.6:p.Tyr461His
ENST00000409229.7:c.1381T>C	ENSP00000386620.3:p.Tyr461His
ENST00000409294.5:c.241T>C	ENSP00000386852.1:p.Tyr81His
ENST00000409380.5:c.547T>C	ENSP00000386709.1:p.Tyr183His
ENST00000409387.5:c.1381T>C	ENSP00000387308.1:p.Tyr461His
ENST00000409740.3:c.274T>C	ENSP00000386677.3:p.Tyr92His
ENST00000409741.5:c.1381T>C	ENSP00000386954.1:p.Tyr461His
ENST00000611973.4:c.1381T>C	ENSP00000483618.1:p.Tyr461His
ENST00000649044.1:c.*1392T>C	ENSP00000497083.1:n.*1392T>C
XM_011533047.1:c.1381T>C	XP_011531349.1:p.Tyr461His
XM_011533047.3:c.1381T>C	XP_011531349.1:p.Tyr461His