Canonical Allele Identifier: CA2688347248

Gene: EXT1

Linked Data

• gnomAD v4: 8-118111368-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111368G>A , CM000670.2:g.118111368G>A	GRCh38
NC_000008.10:g.119123607G>A , CM000670.1:g.119123607G>A	GRCh37
NC_000008.9:g.119192788G>A	NCBI36
NG_007455.2:g.5452C>T , LRG_493:g.5452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-322C>T MANE Select	ENSP00000367446.3:n.-322C>T
ENST00000378204.6:c.-322C>T	ENSP00000367446.2:n.-322C>T
NM_000127.2:c.-322C>T , LRG_493t1:c.-322C>T	NP_000118.2:n.-322C>T
NM_000127.3:c.-322C>T MANE Select	NP_000118.2:n.-322C>T