Canonical Allele Identifier: CA462471432

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.119122346T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110107T>G , CM000670.2:g.118110107T>G	GRCh38
NC_000008.10:g.119122346T>G , CM000670.1:g.119122346T>G	GRCh37
NC_000008.9:g.119191527T>G	NCBI36
NG_007455.2:g.6713A>C , LRG_493:g.6713A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378204.7:c.940A>C MANE Select	ENSP00000367446.3:p.Arg314=
ENST00000436216.2:c.308A>C
ENST00000378204.6:c.940A>C	ENSP00000367446.2:p.Arg314=
ENST00000436216.1:c.308A>C
ENST00000437196.1:c.73+867A>C	ENSP00000407299.1:n.73+867A>C
NM_000127.2:c.940A>C , LRG_493t1:c.940A>C	NP_000118.2:p.Arg314=
NM_000127.3:c.940A>C MANE Select	NP_000118.2:p.Arg314=