Canonical Allele Identifier: CA2688347237

Gene: EXT1

Linked Data

• gnomAD v4: 8-118111355-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111355A>G , CM000670.2:g.118111355A>G	GRCh38
NC_000008.10:g.119123594A>G , CM000670.1:g.119123594A>G	GRCh37
NC_000008.9:g.119192775A>G	NCBI36
NG_007455.2:g.5465T>C , LRG_493:g.5465T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-309T>C MANE Select	ENSP00000367446.3:n.-309T>C
ENST00000378204.6:c.-309T>C	ENSP00000367446.2:n.-309T>C
NM_000127.2:c.-309T>C , LRG_493t1:c.-309T>C	NP_000118.2:n.-309T>C
NM_000127.3:c.-309T>C MANE Select	NP_000118.2:n.-309T>C