Canonical Allele Identifier: CA846216806

Gene: EXT1

Linked Data

• dbSNP Id: rs1269046778
• gnomAD v3: 8-117835321-G-C
• gnomAD v4: 8-117835321-G-C
• MyVariant Identifiers: chr8:g.118847560G>C (hg19) ; chr8:g.117835321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835321G>C , CM000670.2:g.117835321G>C	GRCh38
NC_000008.10:g.118847560G>C , CM000670.1:g.118847560G>C	GRCh37
NC_000008.9:g.118916741G>C	NCBI36
NG_007455.2:g.281499C>G , LRG_493:g.281499C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+123C>G
ENST00000378204.7:c.1164+123C>G MANE Select	ENSP00000367446.3:n.1164+123C>G
ENST00000436216.2:c.532+123C>G
ENST00000378204.6:c.1164+123C>G	ENSP00000367446.2:n.1164+123C>G
ENST00000436216.1:c.532+123C>G
ENST00000437196.1:c.*55+123C>G	ENSP00000407299.1:n.*55+123C>G
NM_000127.2:c.1164+123C>G , LRG_493t1:c.1164+123C>G	NP_000118.2:n.1164+123C>G
NM_000127.3:c.1164+123C>G MANE Select	NP_000118.2:n.1164+123C>G