Canonical Allele Identifier: CA6932622
Gene: SLC7A1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.29514470G>A
GRCh37 chr13:g.30088607G>A
gnomAD v2:
13:30088607 G / A
gnomAD v3:
13:29514470 G / A
gnomAD v4:
chr13-29514470-G-A
Joint Max Group AF 0.09752304 (NFE)
Genomes Max Group AF 0.09290642 (NFE)
Exomes Max Group AF 0.09770249 (NFE)
dbSNP:
41318021
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.29514470G>A , CM000675.2:g.29514470G>A GRCh38
NC_000013.10:g.30088607G>A , CM000675.1:g.30088607G>A GRCh37
NC_000013.9:g.28986607G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380752.10:c.*10C>T MANE Select ENSP00000370128.5:n.*10C>T
ENST00000380752.9:c.*10C>T ENSP00000370128.5:n.*10C>T
NM_003045.4:c.*10C>T NP_003036.1:n.*10C>T
XM_005266507.2:c.*10C>T XP_005266564.1:n.*10C>T
XM_005266507.3:c.*10C>T XP_005266564.1:n.*10C>T
XM_017020713.2:c.*35C>T XP_016876202.1:n.*35C>T
NM_003045.5:c.*10C>T MANE Select NP_003036.1:n.*10C>T
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