Canonical Allele Identifier: CA371878278
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807299T>A , CM000670.2:g.117807299T>A GRCh38
NC_000008.10:g.118819538T>A , CM000670.1:g.118819538T>A GRCh37
NC_000008.9:g.118888719T>A NCBI36
NG_007455.2:g.309521A>T , LRG_493:g.309521A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.1268A>T
ENST00000378204.7:c.1801A>T MANE Select ENSP00000367446.3:p.Asn601Tyr
ENST00000378204.6:c.1801A>T ENSP00000367446.2:p.Asn601Tyr
ENST00000437196.1:c.*692A>T ENSP00000407299.1:n.*692A>T
NM_000127.2:c.1801A>T , LRG_493t1:c.1801A>T NP_000118.2:p.Asn601Tyr
NM_000127.3:c.1801A>T MANE Select NP_000118.2:p.Asn601Tyr