Canonical Allele Identifier: CA698344649
Gene: TSC22D1 HGNC NCBI

Linked Data

dbSNP Id: rs1361907450
MyVariant Identifiers: chr13:g.45055000G>C (hg19) chr13:g.44480864G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.44480864G>C , CM000675.2:g.44480864G>C GRCh38
NC_000013.10:g.45055000G>C , CM000675.1:g.45055000G>C GRCh37
NC_000013.9:g.43953000G>C NCBI36
NG_029852.1:g.100702C>G
NG_029852.2:g.100702C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000458659.3:c.2913-44769C>G MANE Select ENSP00000397435.2:n.2913-44769C>G
ENST00000458659.2:c.2913-44769C>G ENSP00000397435.2:n.2913-44769C>G
ENST00000501704.3:c.1664-46850C>G ENSP00000437414.1:n.1664-46850C>G
NM_001243799.1:c.1664-46850C>G NP_001230728.1:n.1664-46850C>G
NM_183422.3:c.2913-44769C>G NP_904358.2:n.2913-44769C>G
XM_024449427.1:c.2913-44769C>G XP_024305195.1:n.2913-44769C>G
NM_183422.4:c.2913-44769C>G MANE Select NP_904358.2:n.2913-44769C>G
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