Canonical Allele Identifier: CA1813956582

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835207A= , CM000670.2:g.117835207A=	GRCh38
NC_000008.10:g.118847446A= , CM000670.1:g.118847446A=	GRCh37
NC_000008.9:g.118916627A=	NCBI36
NG_007455.2:g.281613T= , LRG_493:g.281613T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+237T=
ENST00000378204.7:c.1164+237T= MANE Select	ENSP00000367446.3:n.1164+237T=
ENST00000436216.2:c.532+237T=
ENST00000378204.6:c.1164+237T=	ENSP00000367446.2:n.1164+237T=
ENST00000436216.1:c.532+237T=
ENST00000437196.1:c.*55+237T=	ENSP00000407299.1:n.*55+237T=
NM_000127.2:c.1164+237T= , LRG_493t1:c.1164+237T=	NP_000118.2:n.1164+237T=
NM_000127.3:c.1164+237T= MANE Select	NP_000118.2:n.1164+237T=