Canonical Allele Identifier: CA3063247

Gene: EXOSC9

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121801465T>C , CM000666.2:g.121801465T>C	GRCh38
NC_000004.11:g.122722620T>C , CM000666.1:g.122722620T>C	GRCh37
NC_000004.10:g.122942070T>C	NCBI36
NG_029848.1:g.5149T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005033.3:c.41T>C MANE Select	NP_005024.2:p.Leu14Pro
ENST00000243498.10:c.41T>C MANE Select	ENSP00000243498.5:p.Leu14Pro
NM_001034194.1:c.41T>C	NP_001029366.1:p.Leu14Pro
NM_001034194.2:c.41T>C	NP_001029366.1:p.Leu14Pro
NM_005033.2:c.41T>C	NP_005024.2:p.Leu14Pro
ENST00000243498.9:c.41T>C	ENSP00000243498.5:p.Leu14Pro
ENST00000379663.7:c.41T>C	ENSP00000368984.3:p.Leu14Pro
ENST00000509800.5:c.41T>C	ENSP00000422205.1:p.Leu14Pro
ENST00000509980.5:n.148T>C
ENST00000511454.5:c.41T>C	ENSP00000421845.1:p.Leu14Pro
ENST00000513654.5:c.41T>C	ENSP00000423476.1:p.Leu14Pro
XM_011532035.1:c.41T>C	XP_011530337.1:p.Leu14Pro
XM_011532035.3:c.41T>C	XP_011530337.1:p.Leu14Pro
XR_001741241.2:n.141T>C