Canonical Allele Identifier: CA586206773
Gene: TYRP1 HGNC NCBI

Linked Data

dbSNP Id: rs1409222731
gnomAD v2: 9-12695443-G-A
gnomAD v3: 9-12695443-G-A
gnomAD v4: 9-12695443-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12695443G>A , CM000671.2:g.12695443G>A GRCh38
NC_000009.11:g.12695443G>A , CM000671.1:g.12695443G>A GRCh37
NC_000009.10:g.12685443G>A NCBI36
NG_011705.1:g.7058G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.386-72G>A MANE Select ENSP00000373570.4:n.386-72G>A
ENST00000388918.9:c.386-72G>A ENSP00000373570.4:n.386-72G>A
NM_000550.2:c.386-72G>A NP_000541.1:n.386-72G>A
XR_001746372.2:n.575-72G>A
NM_000550.3:c.386-72G>A MANE Select NP_000541.1:n.386-72G>A