Canonical Allele Identifier: CA371892381

Gene: EXT1

Linked Data

• gnomAD v4: 8-117835502-G-A
• MyVariant Identifiers: chr8:g.118847741G>A (hg19) ; chr8:g.117835502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835502G>A , CM000670.2:g.117835502G>A	GRCh38
NC_000008.10:g.118847741G>A , CM000670.1:g.118847741G>A	GRCh37
NC_000008.9:g.118916922G>A	NCBI36
NG_007455.2:g.281318C>T , LRG_493:g.281318C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.573C>T
ENST00000378204.7:c.1106C>T MANE Select	ENSP00000367446.3:p.Ser369Phe
ENST00000436216.2:c.474C>T
ENST00000378204.6:c.1106C>T	ENSP00000367446.2:p.Ser369Phe
ENST00000436216.1:c.474C>T
ENST00000437196.1:c.123C>T	ENSP00000407299.1:p.Leu41=
NM_000127.2:c.1106C>T , LRG_493t1:c.1106C>T	NP_000118.2:p.Ser369Phe
NM_000127.3:c.1106C>T MANE Select	NP_000118.2:p.Ser369Phe