Canonical Allele Identifier: CA366477279

Gene: PRKN

Linked Data

• gnomAD v4: 6-162443361-C-G
• MyVariant Identifiers: chr6:g.162864393C>G (hg19) ; chr6:g.162443361C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443361C>G , CM000668.2:g.162443361C>G	GRCh38
NC_000006.11:g.162864393C>G , CM000668.1:g.162864393C>G	GRCh37
NC_000006.10:g.162784383C>G	NCBI36
NG_008289.1:g.289442G>C
NG_008289.2:g.289442G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.120G>C	ENSP00000343589.4:p.Gln40His
ENST00000366894.6:c.120G>C	ENSP00000355860.2:p.Gln40His
ENST00000366898.6:c.120G>C MANE Select	ENSP00000355865.1:p.Gln40His
ENST00000648830.1:n.287G>C
ENST00000673871.1:c.115G>C
ENST00000674232.1:n.138G>C
ENST00000674259.1:n.177G>C
ENST00000674493.1:n.137G>C
ENST00000674501.1:n.227G>C
ENST00000338468.7:c.-332G>C	ENSP00000343589.3:n.-332G>C
ENST00000366892.5:c.120G>C	ENSP00000355858.1:p.Gln40His
ENST00000366894.5:c.-213G>C	ENSP00000355860.1:n.-213G>C
ENST00000366896.5:c.120G>C	ENSP00000355862.1:p.Gln40His
ENST00000366897.5:c.120G>C	ENSP00000355863.1:p.Gln40His
ENST00000366898.5:c.120G>C	ENSP00000355865.1:p.Gln40His
ENST00000479615.5:c.-66-180596G>C	ENSP00000434414.1:n.-66-180596G>C
NM_004562.2:c.120G>C	NP_004553.2:p.Gln40His
NM_013987.2:c.120G>C	NP_054642.2:p.Gln40His
NM_013988.2:c.120G>C	NP_054643.2:p.Gln40His
XM_011535863.1:c.120G>C	XP_011534165.1:p.Gln40His
XM_011535864.1:c.120G>C	XP_011534166.1:p.Gln40His
XM_011535865.1:c.120G>C	XP_011534167.1:p.Gln40His
XM_011535866.1:c.120G>C	XP_011534168.1:p.Gln40His
XM_011535867.1:c.120G>C	XP_011534169.1:p.Gln40His
XM_017010908.1:c.234G>C	XP_016866397.1:p.Gln78His
XM_017010909.2:c.-66-180596G>C	XP_016866398.1:n.-66-180596G>C
XM_024446449.1:c.-66-180596G>C	XP_024302217.1:n.-66-180596G>C
XR_001743443.2:n.226G>C
NM_004562.3:c.120G>C MANE Select	NP_004553.2:p.Gln40His
NM_013987.3:c.120G>C	NP_054642.2:p.Gln40His
NM_013988.3:c.120G>C	NP_054643.2:p.Gln40His