Canonical Allele Identifier: CA346681480

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44301128G>C , CM000664.2:g.44301128G>C	GRCh38
NC_000002.11:g.44528267G>C , CM000664.1:g.44528267G>C	GRCh37
NC_000002.10:g.44381771G>C	NCBI36
NG_008233.1:g.30671G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.1136+1G>C MANE Select	NP_000332.2:n.1136+1G>C
ENST00000260649.11:c.1136+1G>C MANE Select	ENSP00000260649.6:n.1136+1G>C
NM_000341.3:c.1136+1G>C	NP_000332.2:n.1136+1G>C
ENST00000260649.10:c.1136+1G>C	ENSP00000260649.6:n.1136+1G>C
ENST00000409229.7:c.1136+1G>C	ENSP00000386620.3:n.1136+1G>C
ENST00000409294.5:c.-5+1038G>C	ENSP00000386852.1:n.-5+1038G>C
ENST00000409380.5:c.302+1G>C	ENSP00000386709.1:n.302+1G>C
ENST00000409387.5:c.1136+1G>C	ENSP00000387308.1:n.1136+1G>C
ENST00000409741.5:c.1136+1G>C	ENSP00000386954.1:n.1136+1G>C
ENST00000410056.7:c.1137G>C	ENSP00000387337.3:p.Arg379Ser
ENST00000611973.4:c.1136+1G>C	ENSP00000483618.1:n.1136+1G>C
ENST00000649044.1:c.*1147+1G>C	ENSP00000497083.1:n.*1147+1G>C
XM_011533047.1:c.1136+1G>C	XP_011531349.1:n.1136+1G>C
XM_011533047.3:c.1136+1G>C	XP_011531349.1:n.1136+1G>C