Canonical Allele Identifier: CA371878224

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807290C>A , CM000670.2:g.117807290C>A	GRCh38
NC_000008.10:g.118819529C>A , CM000670.1:g.118819529C>A	GRCh37
NC_000008.9:g.118888710C>A	NCBI36
NG_007455.2:g.309530G>T , LRG_493:g.309530G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000127.3:c.1810G>T MANE Select	NP_000118.2:p.Glu604Ter
ENST00000378204.7:c.1810G>T MANE Select	ENSP00000367446.3:p.Glu604Ter
NM_000127.2:c.1810G>T , LRG_493t1:c.1810G>T	NP_000118.2:p.Glu604Ter
ENST00000378204.6:c.1810G>T	ENSP00000367446.2:p.Glu604Ter
ENST00000437196.1:c.*701G>T	ENSP00000407299.1:n.*701G>T
ENST00000684189.1:n.1277G>T