Canonical Allele Identifier: CA462468866
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.118847776A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835537A>G , CM000670.2:g.117835537A>G GRCh38
NC_000008.10:g.118847776A>G , CM000670.1:g.118847776A>G GRCh37
NC_000008.9:g.118916957A>G NCBI36
NG_007455.2:g.281283T>C , LRG_493:g.281283T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.538T>C
ENST00000378204.7:c.1071T>C MANE Select ENSP00000367446.3:p.Pro357=
ENST00000436216.2:c.439T>C
ENST00000378204.6:c.1071T>C ENSP00000367446.2:p.Pro357=
ENST00000436216.1:c.439T>C
ENST00000437196.1:c.88T>C ENSP00000407299.1:p.Cys30Arg
NM_000127.2:c.1071T>C , LRG_493t1:c.1071T>C NP_000118.2:p.Pro357=
NM_000127.3:c.1071T>C MANE Select NP_000118.2:p.Pro357=