Canonical Allele Identifier: CA4854266
Community Standard Title: NM_000127.3(EXT1):c.1019G>A (p.Arg340His)
Gene: EXT1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837145C>T , CM000670.2:g.117837145C>T GRCh38
NC_000008.10:g.118849384C>T , CM000670.1:g.118849384C>T GRCh37
NC_000008.9:g.118918565C>T NCBI36
NG_007455.2:g.279675G>A , LRG_493:g.279675G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000127.3:c.1019G>A MANE Select NP_000118.2:p.Arg340His
ENST00000378204.7:c.1019G>A MANE Select ENSP00000367446.3:p.Arg340His
NM_000127.2:c.1019G>A , LRG_493t1:c.1019G>A NP_000118.2:p.Arg340His
ENST00000378204.6:c.1019G>A ENSP00000367446.2:p.Arg340His
ENST00000436216.1:c.387G>A
ENST00000436216.2:c.387G>A
ENST00000437196.1:c.74-1594G>A ENSP00000407299.1:n.74-1594G>A
ENST00000684189.1:n.486G>A
Search 100 bp 5'
Search 100 bp 3'