Canonical Allele Identifier: CA2592418713

Gene: TSC22D1

Linked Data

• dbSNP Id: rs2137931472
• gnomAD v3: 13-44480873-G-A
• gnomAD v4: 13-44480873-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.44480873G>A , CM000675.2:g.44480873G>A	GRCh38
NC_000013.10:g.45055009G>A , CM000675.1:g.45055009G>A	GRCh37
NC_000013.9:g.43953009G>A	NCBI36
NG_029852.1:g.100693C>T
NG_029852.2:g.100693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458659.3:c.2913-44778C>T MANE Select	ENSP00000397435.2:n.2913-44778C>T
ENST00000458659.2:c.2913-44778C>T	ENSP00000397435.2:n.2913-44778C>T
ENST00000501704.3:c.1664-46859C>T	ENSP00000437414.1:n.1664-46859C>T
NM_001243799.1:c.1664-46859C>T	NP_001230728.1:n.1664-46859C>T
NM_183422.3:c.2913-44778C>T	NP_904358.2:n.2913-44778C>T
XM_024449427.1:c.2913-44778C>T	XP_024305195.1:n.2913-44778C>T
NM_183422.4:c.2913-44778C>T MANE Select	NP_904358.2:n.2913-44778C>T