Canonical Allele Identifier: CA371914755

Gene: EXT1

Linked Data

• gnomAD v4: 8-118110128-G-A
• MyVariant Identifiers: chr8:g.119122367G>A (hg19) ; chr8:g.118110128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110128G>A , CM000670.2:g.118110128G>A	GRCh38
NC_000008.10:g.119122367G>A , CM000670.1:g.119122367G>A	GRCh37
NC_000008.9:g.119191548G>A	NCBI36
NG_007455.2:g.6692C>T , LRG_493:g.6692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.919C>T MANE Select	ENSP00000367446.3:p.His307Tyr
ENST00000436216.2:c.287C>T
ENST00000378204.6:c.919C>T	ENSP00000367446.2:p.His307Tyr
ENST00000436216.1:c.287C>T
ENST00000437196.1:c.73+846C>T	ENSP00000407299.1:n.73+846C>T
NM_000127.2:c.919C>T , LRG_493t1:c.919C>T	NP_000118.2:p.His307Tyr
NM_000127.3:c.919C>T MANE Select	NP_000118.2:p.His307Tyr