Canonical Allele Identifier: CA394812738

Gene: PARN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14555652A>G , CM000678.2:g.14555652A>G	GRCh38
NC_000016.9:g.14649509A>G , CM000678.1:g.14649509A>G	GRCh37
NC_000016.8:g.14557010A>G	NCBI36
NG_042871.1:g.79620T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002582.4:c.1318+2T>C MANE Select	NP_002573.1:n.1318+2T>C
ENST00000437198.7:c.1318+2T>C MANE Select	ENSP00000387911.2:n.1318+2T>C
NM_001134477.2:c.1135+2T>C	NP_001127949.1:n.1135+2T>C
NM_001134477.3:c.1135+2T>C	NP_001127949.1:n.1135+2T>C
NM_001242992.1:c.1180+2T>C	NP_001229921.1:n.1180+2T>C
NM_001242992.2:c.1180+2T>C	NP_001229921.1:n.1180+2T>C
NM_002582.3:c.1318+2T>C	NP_002573.1:n.1318+2T>C
ENST00000341484.11:c.1135+2T>C	ENSP00000345456.7:n.1135+2T>C
ENST00000420015.6:c.1180+2T>C	ENSP00000410525.2:n.1180+2T>C
ENST00000437198.6:c.1318+2T>C	ENSP00000387911.2:n.1318+2T>C
ENST00000539279.5:c.793+2T>C	ENSP00000444381.1:n.793+2T>C
ENST00000563641.6:c.*1082+2T>C	ENSP00000458103.1:n.*1082+2T>C
ENST00000564113.6:n.1428+2T>C
ENST00000564904.5:n.116+2T>C
ENST00000650960.1:c.1318+2T>C	ENSP00000499110.1:n.1318+2T>C
ENST00000650990.1:c.1393+2T>C	ENSP00000498741.1:n.1393+2T>C
ENST00000651027.1:c.1318+2T>C	ENSP00000498640.1:n.1318+2T>C
ENST00000651049.1:c.1318+2T>C	ENSP00000498644.1:n.1318+2T>C
ENST00000651300.1:c.*1212+2T>C	ENSP00000498294.1:n.*1212+2T>C
ENST00000651348.1:c.*389+2T>C	ENSP00000498315.1:n.*389+2T>C
ENST00000651634.1:c.1318+2T>C	ENSP00000499078.1:n.1318+2T>C
ENST00000651760.1:c.2506+2T>C
ENST00000651865.1:c.1243+2T>C	ENSP00000498567.1:n.1243+2T>C
ENST00000651913.1:c.1265+2T>C
ENST00000652051.1:c.*94+2T>C	ENSP00000498898.1:n.*94+2T>C
ENST00000652066.1:c.1098+2T>C
ENST00000652411.1:n.1475+2T>C
ENST00000652501.1:c.1318+2T>C	ENSP00000498261.1:n.1318+2T>C
ENST00000652541.1:c.*1150+2T>C	ENSP00000499206.1:n.*1150+2T>C
ENST00000652727.1:c.1231+2T>C	ENSP00000498650.1:n.1231+2T>C
ENST00000697471.1:n.1769+2T>C
ENST00000697472.1:n.1359+2T>C
ENST00000697473.1:n.2920+2T>C
ENST00000697474.1:c.1318+2T>C	ENSP00000513329.1:n.1318+2T>C
ENST00000697475.1:n.1473+2T>C
ENST00000697476.1:n.1451+2T>C
XM_011522510.1:c.1318+2T>C	XP_011520812.1:n.1318+2T>C
XM_011522510.3:c.1318+2T>C	XP_011520812.1:n.1318+2T>C
XM_011522511.1:c.1318+2T>C	XP_011520813.1:n.1318+2T>C
XM_011522511.2:c.1318+2T>C	XP_011520813.1:n.1318+2T>C
XM_011522512.1:c.1318+2T>C	XP_011520814.1:n.1318+2T>C
XM_011522513.1:c.1135+2T>C	XP_011520815.1:n.1135+2T>C
XM_011522513.2:c.1135+2T>C	XP_011520815.1:n.1135+2T>C
XM_017023258.2:c.1240+2T>C	XP_016878747.1:n.1240+2T>C
XM_017023259.2:c.481+2T>C	XP_016878748.1:n.481+2T>C
XM_017023260.1:c.481+2T>C	XP_016878749.1:n.481+2T>C
XM_024450292.1:c.481+2T>C	XP_024306060.1:n.481+2T>C
XR_001751906.2:n.1435+2T>C