Canonical Allele Identifier: CA2580840291

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110007T>G , CM000670.2:g.118110007T>G	GRCh38
NC_000008.10:g.119122246T>G , CM000670.1:g.119122246T>G	GRCh37
NC_000008.9:g.119191427T>G	NCBI36
NG_007455.2:g.6813A>C , LRG_493:g.6813A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.962+78A>C MANE Select	ENSP00000367446.3:n.962+78A>C
ENST00000436216.2:c.330+78A>C
ENST00000378204.6:c.962+78A>C	ENSP00000367446.2:n.962+78A>C
ENST00000436216.1:c.330+78A>C
ENST00000437196.1:c.73+967A>C	ENSP00000407299.1:n.73+967A>C
NM_000127.2:c.962+78A>C , LRG_493t1:c.962+78A>C	NP_000118.2:n.962+78A>C
NM_000127.3:c.962+78A>C MANE Select	NP_000118.2:n.962+78A>C