Canonical Allele Identifier: CA371914697

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.119122342T>C (hg19) ; chr8:g.118110103T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110103T>C , CM000670.2:g.118110103T>C	GRCh38
NC_000008.10:g.119122342T>C , CM000670.1:g.119122342T>C	GRCh37
NC_000008.9:g.119191523T>C	NCBI36
NG_007455.2:g.6717A>G , LRG_493:g.6717A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378204.7:c.944A>G MANE Select	ENSP00000367446.3:p.Asp315Gly
ENST00000436216.2:c.312A>G
ENST00000378204.6:c.944A>G	ENSP00000367446.2:p.Asp315Gly
ENST00000436216.1:c.312A>G
ENST00000437196.1:c.73+871A>G	ENSP00000407299.1:n.73+871A>G
NM_000127.2:c.944A>G , LRG_493t1:c.944A>G	NP_000118.2:p.Asp315Gly
NM_000127.3:c.944A>G MANE Select	NP_000118.2:p.Asp315Gly