Canonical Allele Identifier: CA2668769363

Gene: PARL

Linked Data

• gnomAD v4: 3-183867771-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183867771C>A , CM000665.2:g.183867771C>A	GRCh38
NC_000003.11:g.183585559C>A , CM000665.1:g.183585559C>A	GRCh37
NC_000003.10:g.185068253C>A	NCBI36
NG_046164.1:g.22135G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317096.9:c.321+94G>T MANE Select	ENSP00000325421.5:n.321+94G>T
ENST00000638817.1:c.321+94G>T	ENSP00000492596.1:n.321+94G>T
ENST00000639100.1:c.-373+94G>T	ENSP00000491186.1:n.-373+94G>T
ENST00000639401.1:c.321+94G>T	ENSP00000491227.1:n.321+94G>T
ENST00000639900.1:c.321+94G>T	ENSP00000491109.1:n.321+94G>T
ENST00000311101.9:c.321+94G>T	ENSP00000310676.5:n.321+94G>T
ENST00000317096.8:c.321+94G>T	ENSP00000325421.4:n.321+94G>T
ENST00000421484.5:c.321+94G>T	ENSP00000404421.1:n.321+94G>T
ENST00000435888.5:c.321+94G>T	ENSP00000402137.1:n.321+94G>T
ENST00000449306.1:c.202+94G>T
ENST00000469056.1:n.243+94G>T
NM_001037639.1:c.321+94G>T	NP_001032728.1:n.321+94G>T
NM_018622.5:c.321+94G>T	NP_061092.3:n.321+94G>T
XM_005247582.3:c.321+94G>T	XP_005247639.1:n.321+94G>T
XM_005247584.3:c.321+94G>T	XP_005247641.1:n.321+94G>T
XM_005247587.1:c.-309+94G>T	XP_005247644.1:n.-309+94G>T
NM_001037639.2:c.321+94G>T	NP_001032728.1:n.321+94G>T
NM_001324436.1:c.321+94G>T	NP_001311365.1:n.321+94G>T
NM_001324437.1:c.321+94G>T	NP_001311366.1:n.321+94G>T
NM_001324438.1:c.321+94G>T	NP_001311367.1:n.321+94G>T
NM_018622.6:c.321+94G>T	NP_061092.3:n.321+94G>T
NR_136893.1:n.383+94G>T
XM_005247582.5:c.321+94G>T	XP_005247639.1:n.321+94G>T
XM_017006800.2:c.321+94G>T	XP_016862289.1:n.321+94G>T
XM_017006801.1:c.321+94G>T	XP_016862290.1:n.321+94G>T
XM_017006802.1:c.321+94G>T	XP_016862291.1:n.321+94G>T
XM_017006803.1:c.-309+94G>T	XP_016862292.1:n.-309+94G>T
XM_024453628.1:c.-253+94G>T	XP_024309396.1:n.-253+94G>T
XM_024453629.1:c.-309+94G>T	XP_024309397.1:n.-309+94G>T
XM_024453630.1:c.-373+94G>T	XP_024309398.1:n.-373+94G>T
XM_024453631.1:c.-429+94G>T	XP_024309399.1:n.-429+94G>T
XM_024453632.1:c.-429+94G>T	XP_024309400.1:n.-429+94G>T
XM_024453633.1:c.-373+94G>T	XP_024309401.1:n.-373+94G>T
NM_001037639.3:c.321+94G>T	NP_001032728.1:n.321+94G>T
NM_001324436.2:c.321+94G>T	NP_001311365.1:n.321+94G>T
NM_001324437.2:c.321+94G>T	NP_001311366.1:n.321+94G>T
NM_001324438.2:c.321+94G>T	NP_001311367.1:n.321+94G>T
NM_018622.7:c.321+94G>T MANE Select	NP_061092.3:n.321+94G>T
NR_136893.2:n.355+94G>T