Canonical Allele Identifier: CA1640267
Community Standard Title: NM_000341.4(SLC3A1):c.766-2A>C
Gene: SLC3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44286030A>C , CM000664.2:g.44286030A>C GRCh38
NC_000002.11:g.44513169A>C , CM000664.1:g.44513169A>C GRCh37
NC_000002.10:g.44366673A>C NCBI36
NG_008233.1:g.15573A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000341.4:c.766-2A>C MANE Select NP_000332.2:n.766-2A>C
ENST00000260649.11:c.766-2A>C MANE Select ENSP00000260649.6:n.766-2A>C
NM_000341.3:c.766-2A>C NP_000332.2:n.766-2A>C
ENST00000260649.10:c.766-2A>C ENSP00000260649.6:n.766-2A>C
ENST00000409229.7:c.766-2A>C ENSP00000386620.3:n.766-2A>C
ENST00000409380.5:c.-71A>C ENSP00000386709.1:n.-71A>C
ENST00000409387.5:c.766-2A>C ENSP00000387308.1:n.766-2A>C
ENST00000409741.5:c.766-2A>C ENSP00000386954.1:n.766-2A>C
ENST00000410056.7:c.766-2A>C ENSP00000387337.3:n.766-2A>C
ENST00000427285.1:c.100-2A>C ENSP00000391642.1:n.100-2A>C
ENST00000611973.4:c.766-2A>C ENSP00000483618.1:n.766-2A>C
ENST00000649044.1:c.*777-2A>C ENSP00000497083.1:n.*777-2A>C
XM_011533047.1:c.766-2A>C XP_011531349.1:n.766-2A>C
XM_011533047.3:c.766-2A>C XP_011531349.1:n.766-2A>C