Canonical Allele Identifier: CA11214217
Community Standard Title: NM_000341.4(SLC3A1):c.431-182G>A
Gene: SLC3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44280534G>A , CM000664.2:g.44280534G>A GRCh38
NC_000002.11:g.44507673G>A , CM000664.1:g.44507673G>A GRCh37
NC_000002.10:g.44361177G>A NCBI36
NG_008233.1:g.10077G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000341.4:c.431-182G>A MANE Select NP_000332.2:n.431-182G>A
ENST00000260649.11:c.431-182G>A MANE Select ENSP00000260649.6:n.431-182G>A
NM_000341.3:c.431-182G>A NP_000332.2:n.431-182G>A
ENST00000260649.10:c.431-182G>A ENSP00000260649.6:n.431-182G>A
ENST00000409229.7:c.431-182G>A ENSP00000386620.3:n.431-182G>A
ENST00000409387.5:c.431-182G>A ENSP00000387308.1:n.431-182G>A
ENST00000409741.5:c.431-182G>A ENSP00000386954.1:n.431-182G>A
ENST00000410056.7:c.431-182G>A ENSP00000387337.3:n.431-182G>A
ENST00000611973.4:c.431-182G>A ENSP00000483618.1:n.431-182G>A
ENST00000649044.1:c.*442-182G>A ENSP00000497083.1:n.*442-182G>A
XM_011533047.1:c.431-182G>A XP_011531349.1:n.431-182G>A
XM_011533047.3:c.431-182G>A XP_011531349.1:n.431-182G>A