Canonical Allele Identifier: CA619856722

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1277619546
• gnomAD v2: 15-89425013-A-C
• gnomAD v3: 15-88881782-A-C
• gnomAD v4: 15-88881782-A-C
• MyVariant Identifiers: chr15:g.89425013A>C (hg19) ; chr15:g.88881782A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881782A>C , CM000677.2:g.88881782A>C	GRCh38
NC_000015.9:g.89425013A>C , CM000677.1:g.89425013A>C	GRCh37
NC_000015.8:g.87226017A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.125-57T>G MANE Select	ENSP00000352606.4:n.125-57T>G
ENST00000359595.7:c.125-57T>G	ENSP00000352606.3:n.125-57T>G
ENST00000558770.5:c.125-57T>G	ENSP00000456458.1:n.125-57T>G
ENST00000562281.1:c.125-57T>G	ENSP00000456985.1:n.125-57T>G
ENST00000562889.5:c.311-57T>G	ENSP00000457180.1:n.311-57T>G
ENST00000563808.1:n.227-57T>G
NM_001307952.1:c.311-57T>G	NP_001294881.1:n.311-57T>G
NM_178232.2:c.125-57T>G	NP_839946.1:n.125-57T>G
NM_178232.3:c.125-57T>G	NP_839946.1:n.125-57T>G
XM_011521261.1:c.257-57T>G	XP_011519563.1:n.257-57T>G
XR_243204.1:n.340-57T>G
XR_931756.1:n.446-57T>G
XM_017021934.2:c.311-57T>G	XP_016877423.1:n.311-57T>G
XM_017021935.2:c.-255-57T>G	XP_016877424.1:n.-255-57T>G
XM_017021936.2:c.-255-57T>G	XP_016877425.1:n.-255-57T>G
XR_001751098.2:n.458-57T>G
XR_931756.3:n.459-57T>G
NM_001307952.2:c.311-57T>G	NP_001294881.1:n.311-57T>G
NM_178232.4:c.125-57T>G MANE Select	NP_839946.1:n.125-57T>G