Canonical Allele Identifier: CA393734052

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881689-G-C
• MyVariant Identifiers: chr15:g.89424920G>C (hg19) ; chr15:g.88881689G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881689G>C , CM000677.2:g.88881689G>C	GRCh38
NC_000015.9:g.89424920G>C , CM000677.1:g.89424920G>C	GRCh37
NC_000015.8:g.87225924G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.161C>G MANE Select	ENSP00000352606.4:p.Pro54Arg
ENST00000359595.7:c.161C>G	ENSP00000352606.3:p.Pro54Arg
ENST00000558770.5:c.161C>G	ENSP00000456458.1:p.Pro54Arg
ENST00000562281.1:c.161C>G	ENSP00000456985.1:p.Pro54Arg
ENST00000562889.5:c.347C>G	ENSP00000457180.1:p.Pro116Arg
ENST00000563808.1:n.263C>G
NM_001307952.1:c.347C>G	NP_001294881.1:p.Pro116Arg
NM_178232.2:c.161C>G	NP_839946.1:p.Pro54Arg
NM_178232.3:c.161C>G	NP_839946.1:p.Pro54Arg
XM_011521261.1:c.293C>G	XP_011519563.1:p.Pro98Arg
XR_243204.1:n.376C>G
XR_931756.1:n.482C>G
XM_017021934.2:c.347C>G	XP_016877423.1:p.Pro116Arg
XM_017021935.2:c.-219C>G	XP_016877424.1:n.-219C>G
XM_017021936.2:c.-219C>G	XP_016877425.1:n.-219C>G
XR_001751098.2:n.494C>G
XR_931756.3:n.495C>G
NM_001307952.2:c.347C>G	NP_001294881.1:p.Pro116Arg
NM_178232.4:c.161C>G MANE Select	NP_839946.1:p.Pro54Arg