Canonical Allele Identifier: CA1022542

Gene: TSHB

Linked Data

• dbSNP Id: rs749344893
• ExAC: 1:115576174 T / C
• gnomAD v2: 1-115576174-T-C
• gnomAD v3: 1-115033553-T-C
• gnomAD v4: 1-115033553-T-C
• MyVariant Identifiers: chr1:g.115576174T>C (hg19) ; chr1:g.115033553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033553T>C , CM000663.2:g.115033553T>C	GRCh38
NC_000001.10:g.115576174T>C , CM000663.1:g.115576174T>C	GRCh37
NC_000001.9:g.115377697T>C	NCBI36
NG_015891.1:g.8760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256592.3:c.162+29T>C MANE Select	ENSP00000256592.1:n.162+29T>C
ENST00000256592.2:c.162+29T>C	ENSP00000256592.1:n.162+29T>C
ENST00000369517.1:c.162+29T>C	ENSP00000358530.1:n.162+29T>C
NM_000549.4:c.162+29T>C	NP_000540.2:n.162+29T>C
XM_011542065.1:c.162+29T>C	XP_011540367.1:n.162+29T>C
XM_011542065.2:c.162+29T>C	XP_011540367.1:n.162+29T>C
NM_000549.5:c.162+29T>C MANE Select	NP_000540.2:n.162+29T>C