Canonical Allele Identifier: CA46500980

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44304496T>C , CM000664.2:g.44304496T>C	GRCh38
NC_000002.11:g.44531635T>C , CM000664.1:g.44531635T>C	GRCh37
NC_000002.10:g.44385139T>C	NCBI36
NG_008233.1:g.34039T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.1332+158T>C MANE Select	NP_000332.2:n.1332+158T>C
ENST00000260649.11:c.1332+158T>C MANE Select	ENSP00000260649.6:n.1332+158T>C
NM_000341.3:c.1332+158T>C	NP_000332.2:n.1332+158T>C
ENST00000260649.10:c.1332+158T>C	ENSP00000260649.6:n.1332+158T>C
ENST00000409229.7:c.1332+158T>C	ENSP00000386620.3:n.1332+158T>C
ENST00000409294.5:c.192+158T>C	ENSP00000386852.1:n.192+158T>C
ENST00000409380.5:c.498+158T>C	ENSP00000386709.1:n.498+158T>C
ENST00000409387.5:c.1332+158T>C	ENSP00000387308.1:n.1332+158T>C
ENST00000409740.3:c.225+158T>C	ENSP00000386677.3:n.225+158T>C
ENST00000409741.5:c.1332+158T>C	ENSP00000386954.1:n.1332+158T>C
ENST00000611973.4:c.1332+158T>C	ENSP00000483618.1:n.1332+158T>C
ENST00000649044.1:c.*1343+158T>C	ENSP00000497083.1:n.*1343+158T>C
XM_011533047.1:c.1332+158T>C	XP_011531349.1:n.1332+158T>C
XM_011533047.3:c.1332+158T>C	XP_011531349.1:n.1332+158T>C