Canonical Allele Identifier: CA371876991

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117804777A>T , CM000670.2:g.117804777A>T	GRCh38
NC_000008.10:g.118817016A>T , CM000670.1:g.118817016A>T	GRCh37
NC_000008.9:g.118886197A>T	NCBI36
NG_007455.2:g.312043T>A , LRG_493:g.312043T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000127.3:c.2000T>A MANE Select	NP_000118.2:p.Leu667Ter
ENST00000378204.7:c.2000T>A MANE Select	ENSP00000367446.3:p.Leu667Ter
NM_000127.2:c.2000T>A , LRG_493t1:c.2000T>A	NP_000118.2:p.Leu667Ter
ENST00000378204.6:c.2000T>A	ENSP00000367446.2:p.Leu667Ter
ENST00000437196.1:c.*891T>A	ENSP00000407299.1:n.*891T>A
ENST00000684189.1:n.1467T>A
ENST00000684443.1:n.2126T>A