Canonical Allele Identifier: CA371914907

Gene: EXT1

Linked Data

• dbSNP Id: rs1817869507
• gnomAD v4: 8-118110193-T-G
• MyVariant Identifiers: chr8:g.119122432T>G (hg19) ; chr8:g.118110193T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110193T>G , CM000670.2:g.118110193T>G	GRCh38
NC_000008.10:g.119122432T>G , CM000670.1:g.119122432T>G	GRCh37
NC_000008.9:g.119191613T>G	NCBI36
NG_007455.2:g.6627A>C , LRG_493:g.6627A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.854A>C MANE Select	ENSP00000367446.3:p.His285Pro
ENST00000436216.2:c.222A>C
ENST00000378204.6:c.854A>C	ENSP00000367446.2:p.His285Pro
ENST00000436216.1:c.222A>C
ENST00000437196.1:c.73+781A>C	ENSP00000407299.1:n.73+781A>C
NM_000127.2:c.854A>C , LRG_493t1:c.854A>C	NP_000118.2:p.His285Pro
NM_000127.3:c.854A>C MANE Select	NP_000118.2:p.His285Pro