Canonical Allele Identifier: CA1813957477
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1812204304
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837311A>T , CM000670.2:g.117837311A>T GRCh38
NC_000008.10:g.118849550A>T , CM000670.1:g.118849550A>T GRCh37
NC_000008.9:g.118918731A>T NCBI36
NG_007455.2:g.279509T>A , LRG_493:g.279509T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.430-110T>A
ENST00000378204.7:c.963-110T>A MANE Select ENSP00000367446.3:n.963-110T>A
ENST00000436216.2:c.331-110T>A
ENST00000378204.6:c.963-110T>A ENSP00000367446.2:n.963-110T>A
ENST00000436216.1:c.331-110T>A
ENST00000437196.1:c.74-1760T>A ENSP00000407299.1:n.74-1760T>A
NM_000127.2:c.963-110T>A , LRG_493t1:c.963-110T>A NP_000118.2:n.963-110T>A
NM_000127.3:c.963-110T>A MANE Select NP_000118.2:n.963-110T>A
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