Canonical Allele Identifier: CA6932622
Gene: SLC7A1 HGNC NCBI

Linked Data

dbSNP Id: rs41318021
ExAC: 13:30088607 G / A
gnomAD v2: 13-30088607-G-A
gnomAD v3: 13-29514470-G-A
gnomAD v4: 13-29514470-G-A
MyVariant Identifiers: chr13:g.30088607G>A (hg19) chr13:g.29514470G>A (hg38)
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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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