Canonical Allele Identifier: CA492288375

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1224631283
• gnomAD v2: 15-89424658-A-G
• gnomAD v4: 15-88881427-A-G
• MyVariant Identifiers: chr15:g.89424658A>G (hg19) ; chr15:g.88881427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881427A>G , CM000677.2:g.88881427A>G	GRCh38
NC_000015.9:g.89424658A>G , CM000677.1:g.89424658A>G	GRCh37
NC_000015.8:g.87225662A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.423T>C MANE Select	ENSP00000352606.4:p.Tyr141=
ENST00000359595.7:c.423T>C	ENSP00000352606.3:p.Tyr141=
ENST00000558770.5:c.423T>C	ENSP00000456458.1:p.Tyr141=
ENST00000562281.1:c.423T>C	ENSP00000456985.1:p.Tyr141=
ENST00000562889.5:c.609T>C	ENSP00000457180.1:p.Tyr203=
ENST00000563808.1:n.525T>C
NM_001307952.1:c.609T>C	NP_001294881.1:p.Tyr203=
NM_178232.2:c.423T>C	NP_839946.1:p.Tyr141=
NM_178232.3:c.423T>C	NP_839946.1:p.Tyr141=
XM_011521261.1:c.555T>C	XP_011519563.1:p.Tyr185=
XR_243204.1:n.638T>C
XR_931756.1:n.744T>C
XM_017021934.2:c.609T>C	XP_016877423.1:p.Tyr203=
XM_017021935.2:c.44T>C	XP_016877424.1:p.Met15Thr
XM_017021936.2:c.44T>C	XP_016877425.1:p.Met15Thr
XR_001751098.2:n.756T>C
XR_931756.3:n.757T>C
NM_001307952.2:c.609T>C	NP_001294881.1:p.Tyr203=
NM_178232.4:c.423T>C MANE Select	NP_839946.1:p.Tyr141=