Canonical Allele Identifier: CA7721044

Gene: HAPLN3

Linked Data

• dbSNP Id: rs762588041
• ExAC: 15:89424589 C / G
• gnomAD v2: 15-89424589-C-G
• gnomAD v3: 15-88881358-C-G
• gnomAD v4: 15-88881358-C-G
• MyVariant Identifiers: chr15:g.89424589C>G (hg19) ; chr15:g.88881358C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881358C>G , CM000677.2:g.88881358C>G	GRCh38
NC_000015.9:g.89424589C>G , CM000677.1:g.89424589C>G	GRCh37
NC_000015.8:g.87225593C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.492G>C MANE Select	ENSP00000352606.4:p.Arg164=
ENST00000359595.7:c.492G>C	ENSP00000352606.3:p.Arg164=
ENST00000558770.5:c.492G>C	ENSP00000456458.1:p.Arg164=
ENST00000562281.1:c.492G>C	ENSP00000456985.1:p.Arg164=
ENST00000562889.5:c.678G>C	ENSP00000457180.1:p.Arg226=
ENST00000563808.1:n.594G>C
NM_001307952.1:c.678G>C	NP_001294881.1:p.Arg226=
NM_178232.2:c.492G>C	NP_839946.1:p.Arg164=
NM_178232.3:c.492G>C	NP_839946.1:p.Arg164=
XM_011521261.1:c.624G>C	XP_011519563.1:p.Arg208=
XR_243204.1:n.707G>C
XR_931756.1:n.813G>C
XM_017021934.2:c.678G>C	XP_016877423.1:p.Arg226=
XM_017021935.2:c.113G>C	XP_016877424.1:p.Gly38Ala
XM_017021936.2:c.113G>C	XP_016877425.1:p.Gly38Ala
XR_001751098.2:n.825G>C
XR_931756.3:n.826G>C
NM_001307952.2:c.678G>C	NP_001294881.1:p.Arg226=
NM_178232.4:c.492G>C MANE Select	NP_839946.1:p.Arg164=