Canonical Allele Identifier: CA2687964121

Gene: INTS8

Linked Data

• gnomAD v4: 8-94827457-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827457T>C , CM000670.2:g.94827457T>C	GRCh38
NC_000008.10:g.95839685T>C , CM000670.1:g.95839685T>C	GRCh37
NC_000008.9:g.95908861T>C	NCBI36
NG_047163.1:g.19147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.446+54T>C MANE Select	ENSP00000430338.1:n.446+54T>C
ENST00000343161.8:c.446+54T>C	ENSP00000343274.4:n.446+54T>C
ENST00000519053.5:c.119+54T>C	ENSP00000429056.1:n.119+54T>C
ENST00000519457.5:c.306-265T>C	ENSP00000428260.1:n.306-265T>C
ENST00000521860.5:c.408+54T>C
ENST00000522171.5:c.323+54T>C	ENSP00000429340.1:n.323+54T>C
ENST00000523206.5:c.446+54T>C	ENSP00000429452.1:n.446+54T>C
ENST00000523321.5:n.571+54T>C
ENST00000523731.5:c.446+54T>C	ENSP00000430338.1:n.446+54T>C
ENST00000524333.5:c.446+54T>C	ENSP00000427840.1:n.446+54T>C
NM_017864.3:c.446+54T>C	NP_060334.2:n.446+54T>C
NR_073444.1:n.588+54T>C
NR_073445.1:n.588+54T>C
XM_006716602.2:c.446+54T>C	XP_006716665.1:n.446+54T>C
XM_006716603.2:c.119+54T>C	XP_006716666.1:n.119+54T>C
XM_011517155.1:c.323+54T>C	XP_011515457.1:n.323+54T>C
XM_011517156.1:c.446+54T>C	XP_011515458.1:n.446+54T>C
XM_011517157.1:c.119+54T>C	XP_011515459.1:n.119+54T>C
XM_017013616.1:c.446+54T>C	XP_016869105.1:n.446+54T>C
XM_017013617.1:c.446+54T>C	XP_016869106.1:n.446+54T>C
XM_017013618.1:c.119+54T>C	XP_016869107.1:n.119+54T>C
XM_017013619.1:c.-838+54T>C	XP_016869108.1:n.-838+54T>C
NM_017864.4:c.446+54T>C MANE Select	NP_060334.2:n.446+54T>C
NR_073444.2:n.591+54T>C
NR_073445.2:n.591+54T>C