Canonical Allele Identifier: CA10621730

Gene: PRKN

Linked Data

• ClinVar Variation Id: 355984
• ClinVar RCV Id: RCV000400297
• dbSNP Id: rs886061229
• gnomAD v2: 6-161768688-T-C
• gnomAD v3: 6-161347656-T-C
• gnomAD v4: 6-161347656-T-C
• MyVariant Identifiers: chr6:g.161768688T>C (hg19) ; chr6:g.161347656T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161347656T>C , CM000668.2:g.161347656T>C	GRCh38
NC_000006.11:g.161768688T>C , CM000668.1:g.161768688T>C	GRCh37
NC_000006.10:g.161688678T>C	NCBI36
NG_008289.1:g.1385147A>G
NG_008289.2:g.1385147A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366898.6:c.*2443A>G MANE Select	ENSP00000355865.1:n.*2443A>G
ENST00000673871.1:c.3922A>G
ENST00000674006.1:n.3226A>G
ENST00000674436.1:n.3477A>G
ENST00000366898.5:c.*2443A>G	ENSP00000355865.1:n.*2443A>G
NM_004562.2:c.*2443A>G	NP_004553.2:n.*2443A>G
NM_013987.2:c.*2443A>G	NP_054642.2:n.*2443A>G
NM_013988.2:c.*2443A>G	NP_054643.2:n.*2443A>G
XM_011535863.1:c.*2443A>G	XP_011534165.1:n.*2443A>G
XM_017010908.1:c.*2443A>G	XP_016866397.1:n.*2443A>G
XM_017010909.2:c.*2443A>G	XP_016866398.1:n.*2443A>G
XM_024446449.1:c.*2443A>G	XP_024302217.1:n.*2443A>G
XR_001743443.2:n.4033A>G
NM_004562.3:c.*2443A>G MANE Select	NP_004553.2:n.*2443A>G
NM_013987.3:c.*2443A>G	NP_054642.2:n.*2443A>G
NM_013988.3:c.*2443A>G	NP_054643.2:n.*2443A>G