Canonical Allele Identifier: CA10632532
Gene: TYRP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 364844
ClinVar RCV Id: RCV000331853
dbSNP Id: rs181711630
gnomAD v2: 9-12693397-G-A
gnomAD v3: 9-12693397-G-A
gnomAD v4: 9-12693397-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12693397G>A , CM000671.2:g.12693397G>A GRCh38
NC_000009.11:g.12693397G>A , CM000671.1:g.12693397G>A GRCh37
NC_000009.10:g.12683397G>A NCBI36
NG_011705.1:g.5012G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.-167G>A MANE Select ENSP00000373570.4:n.-167G>A
ENST00000459790.1:n.89G>A
ENST00000473763.1:c.-85-515G>A ENSP00000419006.1:n.-85-515G>A
NM_000550.2:c.-167G>A NP_000541.1:n.-167G>A
XR_001746372.2:n.23G>A
NM_000550.3:c.-167G>A MANE Select NP_000541.1:n.-167G>A