Canonical Allele Identifier: CA14300843
Gene: SLC7A6 HGNC NCBI
SLC7A6OS HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68297987G>A , CM000678.2:g.68297987G>A GRCh38
NC_000016.9:g.68331890G>A , CM000678.1:g.68331890G>A GRCh37
NC_000016.8:g.66889391G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219343.11:c.*659G>A (SLC7A6) MANE Select ENSP00000219343.6:n.*659G>A
ENST00000648130.1:c.*1165-504G>A (SLC7A6) ENSP00000496833.1:n.*1165-504G>A
ENST00000219343.10:c.*659G>A (SLC7A6) ENSP00000219343.6:n.*659G>A
ENST00000379152.7:c.*862-504G>A (SLC7A6) ENSP00000368448.3:n.*862-504G>A
ENST00000566454.5:c.*659G>A (SLC7A6) ENSP00000455064.1:n.*659G>A
ENST00000568315.1:c.235+4394C>T (SLC7A6OS)
ENST00000618043.4:c.*1372G>A (SLC7A6) ENSP00000484012.1:n.*1372G>A
NM_001076785.2:c.*659G>A (SLC7A6) NP_001070253.1:n.*659G>A
NM_003983.5:c.*659G>A (SLC7A6) NP_003974.3:n.*659G>A
XM_011523433.1:c.*659G>A (SLC7A6) XP_011521735.1:n.*659G>A
XM_011523434.1:c.*659G>A (SLC7A6) XP_011521736.1:n.*659G>A
XM_011523435.1:c.*659G>A (SLC7A6) XP_011521737.1:n.*659G>A
XM_011523436.1:c.*659G>A (SLC7A6) XP_011521738.1:n.*659G>A
XM_011523437.1:c.*659G>A (SLC7A6) XP_011521739.1:n.*659G>A
XM_011523438.1:c.*659G>A (SLC7A6) XP_011521740.1:n.*659G>A
XM_011523439.1:c.*659G>A (SLC7A6) XP_011521741.1:n.*659G>A
XR_243433.2:n.2609-504G>A (SLC7A6)
XM_011523438.2:c.*659G>A (SLC7A6) XP_011521740.1:n.*659G>A
XM_024450486.1:c.*659G>A (SLC7A6) XP_024306254.1:n.*659G>A
XM_024450487.1:c.*659G>A (SLC7A6) XP_024306255.1:n.*659G>A
XM_024450488.1:c.*659G>A (SLC7A6) XP_024306256.1:n.*659G>A
XR_001752018.1:n.1976-504G>A (SLC7A6)
XR_001752019.2:n.2027-504G>A (SLC7A6)
XR_001752020.1:n.2089-504G>A (SLC7A6)
XR_002957851.1:n.2122-504G>A (SLC7A6)
XR_243433.3:n.1923-504G>A (SLC7A6)
NM_003983.6:c.*659G>A (SLC7A6) MANE Select NP_003974.3:n.*659G>A
NM_001076785.3:c.*659G>A (SLC7A6) NP_001070253.1:n.*659G>A