Canonical Allele Identifier: CA346684725

Gene: SLC3A1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44312754G>A , CM000664.2:g.44312754G>A	GRCh38
NC_000002.11:g.44539893G>A , CM000664.1:g.44539893G>A	GRCh37
NC_000002.10:g.44393397G>A	NCBI36
NG_008233.1:g.42297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260649.11:c.1500+1G>A MANE Select	ENSP00000260649.6:n.1500+1G>A
ENST00000649044.1:c.*1511+1G>A	ENSP00000497083.1:n.*1511+1G>A
ENST00000260649.10:c.1500+1G>A	ENSP00000260649.6:n.1500+1G>A
ENST00000409229.7:c.1500+1G>A	ENSP00000386620.3:n.1500+1G>A
ENST00000409294.5:c.360+1G>A	ENSP00000386852.1:n.360+1G>A
ENST00000409380.5:c.666+1G>A	ENSP00000386709.1:n.666+1G>A
ENST00000409387.5:c.1500+1G>A	ENSP00000387308.1:n.1500+1G>A
ENST00000409740.3:c.393+1G>A	ENSP00000386677.3:n.393+1G>A
ENST00000409741.5:c.1501G>A	ENSP00000386954.1:p.Val501Ile
ENST00000611973.4:c.1500+1G>A	ENSP00000483618.1:n.1500+1G>A
NM_000341.3:c.1500+1G>A	NP_000332.2:n.1500+1G>A
XM_011533047.1:c.1500+1G>A	XP_011531349.1:n.1500+1G>A
XM_011533047.3:c.1500+1G>A	XP_011531349.1:n.1500+1G>A
NM_000341.4:c.1500+1G>A MANE Select	NP_000332.2:n.1500+1G>A