Canonical Allele Identifier: CA2781902054

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835414A>T , CM000670.2:g.117835414A>T	GRCh38
NC_000008.10:g.118847653A>T , CM000670.1:g.118847653A>T	GRCh37
NC_000008.9:g.118916834A>T	NCBI36
NG_007455.2:g.281406T>A , LRG_493:g.281406T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+30T>A
ENST00000378204.7:c.1164+30T>A MANE Select	ENSP00000367446.3:n.1164+30T>A
ENST00000436216.2:c.532+30T>A
ENST00000378204.6:c.1164+30T>A	ENSP00000367446.2:n.1164+30T>A
ENST00000436216.1:c.532+30T>A
ENST00000437196.1:c.*55+30T>A	ENSP00000407299.1:n.*55+30T>A
NM_000127.2:c.1164+30T>A , LRG_493t1:c.1164+30T>A	NP_000118.2:n.1164+30T>A
NM_000127.3:c.1164+30T>A MANE Select	NP_000118.2:n.1164+30T>A