Canonical Allele Identifier: CA2623083202

Gene: INTS6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51368788G>T , CM000675.2:g.51368788G>T	GRCh38
NC_000013.10:g.51942924G>T , CM000675.1:g.51942924G>T	GRCh37
NC_000013.9:g.50840925G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_012141.3:c.2476+151C>A MANE Select	NP_036273.1:n.2476+151C>A
ENST00000311234.9:c.2476+151C>A MANE Select	ENSP00000310260.4:n.2476+151C>A
NM_001039937.1:c.2437+151C>A	NP_001035026.1:n.2437+151C>A
NM_001039937.2:c.2437+151C>A	NP_001035026.1:n.2437+151C>A
NM_001306091.1:c.1942+151C>A	NP_001293020.1:n.1942+151C>A
NM_001306091.2:c.1942+151C>A	NP_001293020.1:n.1942+151C>A
NM_012141.2:c.2476+151C>A	NP_036273.1:n.2476+151C>A
ENST00000311234.8:c.2476+151C>A	ENSP00000310260.4:n.2476+151C>A
ENST00000398119.6:c.2437+151C>A	ENSP00000381187.2:n.2437+151C>A
ENST00000469430.5:c.*2304+151C>A	ENSP00000417442.1:n.*2304+151C>A
ENST00000476666.5:n.193+151C>A
ENST00000483441.5:n.2532+151C>A
ENST00000490542.5:c.1528+151C>A	ENSP00000419984.1:n.1528+151C>A
ENST00000497989.5:c.1942+151C>A	ENSP00000419871.1:n.1942+151C>A
XM_005266341.2:c.1180+151C>A	XP_005266398.1:n.1180+151C>A
XM_011535040.1:c.2476+151C>A	XP_011533342.1:n.2476+151C>A
XM_011535040.3:c.2476+151C>A	XP_011533342.1:n.2476+151C>A
XM_011535041.1:c.1834+151C>A	XP_011533343.1:n.1834+151C>A
XM_011535041.2:c.1834+151C>A	XP_011533343.1:n.1834+151C>A
XM_017020540.2:c.1180+151C>A	XP_016876029.1:n.1180+151C>A