Canonical Allele Identifier: CA189306019
Gene: TYRP1 HGNC NCBI

Linked Data

dbSNP Id: rs186480520
gnomAD v2: 9-12695430-T-C
gnomAD v3: 9-12695430-T-C
gnomAD v4: 9-12695430-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12695430T>C , CM000671.2:g.12695430T>C GRCh38
NC_000009.11:g.12695430T>C , CM000671.1:g.12695430T>C GRCh37
NC_000009.10:g.12685430T>C NCBI36
NG_011705.1:g.7045T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.386-85T>C MANE Select ENSP00000373570.4:n.386-85T>C
ENST00000388918.9:c.386-85T>C ENSP00000373570.4:n.386-85T>C
NM_000550.2:c.386-85T>C NP_000541.1:n.386-85T>C
XR_001746372.2:n.575-85T>C
NM_000550.3:c.386-85T>C MANE Select NP_000541.1:n.386-85T>C