Canonical Allele Identifier: CA393733532

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1250257148
• gnomAD v2: 15-89424659-T-C
• gnomAD v3: 15-88881428-T-C
• gnomAD v4: 15-88881428-T-C
• MyVariant Identifiers: chr15:g.89424659T>C (hg19) ; chr15:g.88881428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881428T>C , CM000677.2:g.88881428T>C	GRCh38
NC_000015.9:g.89424659T>C , CM000677.1:g.89424659T>C	GRCh37
NC_000015.8:g.87225663T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.422A>G MANE Select	ENSP00000352606.4:p.Tyr141Cys
ENST00000359595.7:c.422A>G	ENSP00000352606.3:p.Tyr141Cys
ENST00000558770.5:c.422A>G	ENSP00000456458.1:p.Tyr141Cys
ENST00000562281.1:c.422A>G	ENSP00000456985.1:p.Tyr141Cys
ENST00000562889.5:c.608A>G	ENSP00000457180.1:p.Tyr203Cys
ENST00000563808.1:n.524A>G
NM_001307952.1:c.608A>G	NP_001294881.1:p.Tyr203Cys
NM_178232.2:c.422A>G	NP_839946.1:p.Tyr141Cys
NM_178232.3:c.422A>G	NP_839946.1:p.Tyr141Cys
XM_011521261.1:c.554A>G	XP_011519563.1:p.Tyr185Cys
XR_243204.1:n.637A>G
XR_931756.1:n.743A>G
XM_017021934.2:c.608A>G	XP_016877423.1:p.Tyr203Cys
XM_017021935.2:c.43A>G	XP_016877424.1:p.Met15Val
XM_017021936.2:c.43A>G	XP_016877425.1:p.Met15Val
XR_001751098.2:n.755A>G
XR_931756.3:n.756A>G
NM_001307952.2:c.608A>G	NP_001294881.1:p.Tyr203Cys
NM_178232.4:c.422A>G MANE Select	NP_839946.1:p.Tyr141Cys