Canonical Allele Identifier: CA1022540

Gene: TSHB

Linked Data

• ClinVar Variation Id: 2797233
• ClinVar RCV Id: RCV003673089
• dbSNP Id: rs556586420
• ExAC: 1:115576162 A / G
• gnomAD v2: 1-115576162-A-G
• gnomAD v3: 1-115033541-A-G
• gnomAD v4: 1-115033541-A-G
• MyVariant Identifiers: chr1:g.115576162A>G (hg19) ; chr1:g.115033541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033541A>G , CM000663.2:g.115033541A>G	GRCh38
NC_000001.10:g.115576162A>G , CM000663.1:g.115576162A>G	GRCh37
NC_000001.9:g.115377685A>G	NCBI36
NG_015891.1:g.8748A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256592.3:c.162+17A>G MANE Select	ENSP00000256592.1:n.162+17A>G
ENST00000256592.2:c.162+17A>G	ENSP00000256592.1:n.162+17A>G
ENST00000369517.1:c.162+17A>G	ENSP00000358530.1:n.162+17A>G
NM_000549.4:c.162+17A>G	NP_000540.2:n.162+17A>G
XM_011542065.1:c.162+17A>G	XP_011540367.1:n.162+17A>G
XM_011542065.2:c.162+17A>G	XP_011540367.1:n.162+17A>G
NM_000549.5:c.162+17A>G MANE Select	NP_000540.2:n.162+17A>G