Canonical Allele Identifier: CA1022517
Gene: TSHB HGNC NCBI

Linked Data

ClinVar Variation Id: 256640
ClinVar RCV Id: RCV000242832 RCV000610072 RCV000396537 RCV001618392
dbSNP Id: rs10776792
ExAC: 1:115576023 A / G
gnomAD v2: 1-115576023-A-G
gnomAD v3: 1-115033402-A-G
gnomAD v4: 1-115033402-A-G
MyVariant Identifiers: chr1:g.115576023A>G (hg19) chr1:g.115033402A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033402A>G , CM000663.2:g.115033402A>G GRCh38
NC_000001.10:g.115576023A>G , CM000663.1:g.115576023A>G GRCh37
NC_000001.9:g.115377546A>G NCBI36
NG_015891.1:g.8609A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.40A>G MANE Select ENSP00000256592.1:p.Thr14Ala
ENST00000256592.2:c.40A>G ENSP00000256592.1:p.Thr14Ala
ENST00000369517.1:c.40A>G ENSP00000358530.1:p.Thr14Ala
NM_000549.4:c.40A>G NP_000540.2:p.Thr14Ala
XM_011542065.1:c.40A>G XP_011540367.1:p.Thr14Ala
XM_011542065.2:c.40A>G XP_011540367.1:p.Thr14Ala
NM_000549.5:c.40A>G MANE Select NP_000540.2:p.Thr14Ala
Search 100 bp 5'
Search 100 bp 3'