Canonical Allele Identifier: CA10616985

Gene: HYAL1

Linked Data

• ClinVar Variation Id: 346077
• ClinVar RCV Id: RCV000372088
• dbSNP Id: rs1283
• gnomAD v2: 3-50337422-G-A
• gnomAD v3: 3-50299991-G-A
• gnomAD v4: 3-50299991-G-A
• MyVariant Identifiers: chr3:g.50337422G>A (hg19) ; chr3:g.50299991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50299991G>A , CM000665.2:g.50299991G>A	GRCh38
NC_000003.11:g.50337422G>A , CM000665.1:g.50337422G>A	GRCh37
NC_000003.10:g.50312426G>A	NCBI36
NG_009295.1:g.17391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395144.7:c.*492C>T MANE Select	ENSP00000378576.2:n.*492C>T
ENST00000266031.8:c.*492C>T	ENSP00000266031.4:n.*492C>T
ENST00000320295.12:c.*492C>T	ENSP00000346068.5:n.*492C>T
ENST00000395144.6:c.*492C>T	ENSP00000378576.2:n.*492C>T
ENST00000618175.4:c.*492C>T	ENSP00000477903.1:n.*492C>T
NM_033159.3:c.*492C>T	NP_149349.2:n.*492C>T
NM_153281.1:c.*492C>T	NP_695013.1:n.*492C>T
NM_153282.2:c.*492C>T	NP_695014.1:n.*492C>T
NM_153283.2:c.*492C>T	NP_695015.1:n.*492C>T
NM_153285.2:c.*492C>T	NP_695017.1:n.*492C>T
NR_047690.1:n.2445C>T
XM_011533667.1:c.*492C>T	XP_011531969.1:n.*492C>T
XM_011533668.1:c.*492C>T	XP_011531970.1:n.*492C>T
XM_011533669.1:c.*492C>T	XP_011531971.1:n.*492C>T
XM_011533667.2:c.*492C>T	XP_011531969.1:n.*492C>T
XM_011533668.2:c.*492C>T	XP_011531970.1:n.*492C>T
XM_011533669.2:c.*492C>T	XP_011531971.1:n.*492C>T
NM_033159.4:c.*492C>T MANE Select	NP_149349.2:n.*492C>T
NM_153282.3:c.*492C>T	NP_695014.1:n.*492C>T
NM_153283.3:c.*492C>T	NP_695015.1:n.*492C>T
NM_153285.3:c.*492C>T	NP_695017.1:n.*492C>T
NR_047690.2:n.2418C>T
NM_153281.2:c.*492C>T	NP_695013.1:n.*492C>T