Canonical Allele Identifier: CA2723630

Gene: PARL

Linked Data

• ClinVar Variation Id: 3208656
• ClinVar RCV Id: RCV004502552
• dbSNP Id: rs755025112
• ExAC: 3:183585747 C / G
• gnomAD v2: 3-183585747-C-G
• gnomAD v3: 3-183867959-C-G
• gnomAD v4: 3-183867959-C-G
• MyVariant Identifiers: chr3:g.183585747C>G (hg19) ; chr3:g.183867959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183867959C>G , CM000665.2:g.183867959C>G	GRCh38
NC_000003.11:g.183585747C>G , CM000665.1:g.183585747C>G	GRCh37
NC_000003.10:g.185068441C>G	NCBI36
NG_046164.1:g.21947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317096.9:c.227G>C MANE Select	ENSP00000325421.5:p.Arg76Thr
ENST00000638817.1:c.227G>C	ENSP00000492596.1:p.Arg76Thr
ENST00000639100.1:c.-467G>C	ENSP00000491186.1:n.-467G>C
ENST00000639401.1:c.227G>C	ENSP00000491227.1:p.Arg76Thr
ENST00000639900.1:c.227G>C	ENSP00000491109.1:p.Arg76Thr
ENST00000311101.9:c.227G>C	ENSP00000310676.5:p.Arg76Thr
ENST00000317096.8:c.227G>C	ENSP00000325421.4:p.Arg76Thr
ENST00000421484.5:c.227G>C	ENSP00000404421.1:p.Arg76Thr
ENST00000435888.5:c.227G>C	ENSP00000402137.1:p.Arg76Thr
ENST00000449306.1:c.108G>C
ENST00000469056.1:n.149G>C
NM_001037639.1:c.227G>C	NP_001032728.1:p.Arg76Thr
NM_018622.5:c.227G>C	NP_061092.3:p.Arg76Thr
XM_005247582.3:c.227G>C	XP_005247639.1:p.Arg76Thr
XM_005247584.3:c.227G>C	XP_005247641.1:p.Arg76Thr
NM_001037639.2:c.227G>C	NP_001032728.1:p.Arg76Thr
NM_001324436.1:c.227G>C	NP_001311365.1:p.Arg76Thr
NM_001324437.1:c.227G>C	NP_001311366.1:p.Arg76Thr
NM_001324438.1:c.227G>C	NP_001311367.1:p.Arg76Thr
NM_018622.6:c.227G>C	NP_061092.3:p.Arg76Thr
NR_136893.1:n.289G>C
XM_005247582.5:c.227G>C	XP_005247639.1:p.Arg76Thr
XM_017006800.2:c.227G>C	XP_016862289.1:p.Arg76Thr
XM_017006801.1:c.227G>C	XP_016862290.1:p.Arg76Thr
XM_017006802.1:c.227G>C	XP_016862291.1:p.Arg76Thr
XM_017006803.1:c.-403G>C	XP_016862292.1:n.-403G>C
XM_024453628.1:c.-347G>C	XP_024309396.1:n.-347G>C
XM_024453630.1:c.-467G>C	XP_024309398.1:n.-467G>C
XM_024453631.1:c.-523G>C	XP_024309399.1:n.-523G>C
XM_024453632.1:c.-523G>C	XP_024309400.1:n.-523G>C
XM_024453633.1:c.-467G>C	XP_024309401.1:n.-467G>C
NM_001037639.3:c.227G>C	NP_001032728.1:p.Arg76Thr
NM_001324436.2:c.227G>C	NP_001311365.1:p.Arg76Thr
NM_001324437.2:c.227G>C	NP_001311366.1:p.Arg76Thr
NM_001324438.2:c.227G>C	NP_001311367.1:p.Arg76Thr
NM_018622.7:c.227G>C MANE Select	NP_061092.3:p.Arg76Thr
NR_136893.2:n.261G>C