Canonical Allele Identifier: CA1098516
Gene: TCHH HGNC NCBI

Linked Data

dbSNP Id: rs11803731

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152110849A>T , CM000663.2:g.152110849A>T GRCh38
NC_000001.10:g.152083325A>T , CM000663.1:g.152083325A>T GRCh37
NC_000001.9:g.150349949A>T NCBI36
NG_052960.1:g.9606T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000614923.2:c.2368T>A MANE Select ENSP00000480484.1:p.Leu790Met
ENST00000368804.5:c.2368T>A ENSP00000357794.1:p.Leu790Met
ENST00000614923.1:c.2368T>A ENSP00000480484.1:p.Leu790Met
NM_007113.3:c.2368T>A NP_009044.2:p.Leu790Met
NM_007113.4:c.2368T>A MANE Select NP_009044.2:p.Leu790Met