Canonical Allele Identifier: CA1022511

Gene: TSHB

Linked Data

• dbSNP Id: rs533255695
• ExAC: 1:115575963 T / C
• gnomAD v2: 1-115575963-T-C
• gnomAD v3: 1-115033342-T-C
• gnomAD v4: 1-115033342-T-C
• MyVariant Identifiers: chr1:g.115575963T>C (hg19) ; chr1:g.115033342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033342T>C , CM000663.2:g.115033342T>C	GRCh38
NC_000001.10:g.115575963T>C , CM000663.1:g.115575963T>C	GRCh37
NC_000001.9:g.115377486T>C	NCBI36
NG_015891.1:g.8549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256592.3:c.-1-20T>C MANE Select	ENSP00000256592.1:n.-1-20T>C
ENST00000256592.2:c.-1-20T>C	ENSP00000256592.1:n.-1-20T>C
NM_000549.4:c.-1-20T>C	NP_000540.2:n.-1-20T>C
XM_011542065.1:c.-21T>C	XP_011540367.1:n.-21T>C
XM_011542065.2:c.-21T>C	XP_011540367.1:n.-21T>C
NM_000549.5:c.-1-20T>C MANE Select	NP_000540.2:n.-1-20T>C