Canonical Allele Identifier: CA371914953
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110213G>C , CM000670.2:g.118110213G>C GRCh38
NC_000008.10:g.119122452G>C , CM000670.1:g.119122452G>C GRCh37
NC_000008.9:g.119191633G>C NCBI36
NG_007455.2:g.6607C>G , LRG_493:g.6607C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.834C>G MANE Select ENSP00000367446.3:p.Asp278Glu
ENST00000436216.2:c.202C>G
ENST00000378204.6:c.834C>G ENSP00000367446.2:p.Asp278Glu
ENST00000436216.1:c.202C>G
ENST00000437196.1:c.73+761C>G ENSP00000407299.1:n.73+761C>G
NM_000127.2:c.834C>G , LRG_493t1:c.834C>G NP_000118.2:p.Asp278Glu
NM_000127.3:c.834C>G MANE Select NP_000118.2:p.Asp278Glu