Canonical Allele Identifier: CA462469010

Gene: EXT1

Linked Data

• dbSNP Id: rs1369831625
• gnomAD v2: 8-118849416-G-A
• gnomAD v4: 8-117837177-G-A
• MyVariant Identifiers: chr8:g.118849416G>A (hg19) ; chr8:g.117837177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837177G>A , CM000670.2:g.117837177G>A	GRCh38
NC_000008.10:g.118849416G>A , CM000670.1:g.118849416G>A	GRCh37
NC_000008.9:g.118918597G>A	NCBI36
NG_007455.2:g.279643C>T , LRG_493:g.279643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.454C>T
ENST00000378204.7:c.987C>T MANE Select	ENSP00000367446.3:p.His329=
ENST00000436216.2:c.355C>T
ENST00000378204.6:c.987C>T	ENSP00000367446.2:p.His329=
ENST00000436216.1:c.355C>T
ENST00000437196.1:c.74-1626C>T	ENSP00000407299.1:n.74-1626C>T
NM_000127.2:c.987C>T , LRG_493t1:c.987C>T	NP_000118.2:p.His329=
NM_000127.3:c.987C>T MANE Select	NP_000118.2:p.His329=