Canonical Allele Identifier: CA419891274

Gene: TSHB

Linked Data

• ClinVar Variation Id: 2997242
• ClinVar RCV Id: RCV003851361
• MyVariant Identifiers: chr1:g.115575995C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033374C>T , CM000663.2:g.115033374C>T	GRCh38
NC_000001.10:g.115575995C>T , CM000663.1:g.115575995C>T	GRCh37
NC_000001.9:g.115377518C>T	NCBI36
NG_015891.1:g.8581C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256592.3:c.12C>T MANE Select	ENSP00000256592.1:p.Leu4=
ENST00000256592.2:c.12C>T	ENSP00000256592.1:p.Leu4=
ENST00000369517.1:c.12C>T	ENSP00000358530.1:p.Leu4=
NM_000549.4:c.12C>T	NP_000540.2:p.Leu4=
XM_011542065.1:c.12C>T	XP_011540367.1:p.Leu4=
XM_011542065.2:c.12C>T	XP_011540367.1:p.Leu4=
NM_000549.5:c.12C>T MANE Select	NP_000540.2:p.Leu4=