Canonical Allele Identifier: CA525631183
Gene: TSHB HGNC NCBI

Linked Data

dbSNP Id: rs544200050
gnomAD v2: 1-115575914-A-C
gnomAD v3: 1-115033293-A-C
gnomAD v4: 1-115033293-A-C
MyVariant Identifiers: chr1:g.115575914A>C (hg19) chr1:g.115033293A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033293A>C , CM000663.2:g.115033293A>C GRCh38
NC_000001.10:g.115575914A>C , CM000663.1:g.115575914A>C GRCh37
NC_000001.9:g.115377437A>C NCBI36
NG_015891.1:g.8500A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.-1-69A>C MANE Select ENSP00000256592.1:n.-1-69A>C
ENST00000256592.2:c.-1-69A>C ENSP00000256592.1:n.-1-69A>C
NM_000549.4:c.-1-69A>C NP_000540.2:n.-1-69A>C
XM_011542065.2:c.-70A>C XP_011540367.1:n.-70A>C
NM_000549.5:c.-1-69A>C MANE Select NP_000540.2:n.-1-69A>C
Search 100 bp 5'
Search 100 bp 3'