Canonical Allele Identifier: CA1813915634

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807197G= , CM000670.2:g.117807197G=	GRCh38
NC_000008.10:g.118819436G= , CM000670.1:g.118819436G=	GRCh37
NC_000008.9:g.118888617G=	NCBI36
NG_007455.2:g.309623C= , LRG_493:g.309623C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1350+20C=
ENST00000378204.7:c.1883+20C= MANE Select	ENSP00000367446.3:n.1883+20C=
ENST00000378204.6:c.1883+20C=	ENSP00000367446.2:n.1883+20C=
ENST00000437196.1:c.*774+20C=	ENSP00000407299.1:n.*774+20C=
NM_000127.2:c.1883+20C= , LRG_493t1:c.1883+20C=	NP_000118.2:n.1883+20C=
NM_000127.3:c.1883+20C= MANE Select	NP_000118.2:n.1883+20C=