Canonical Allele Identifier: CA274505741

Gene: HAPLN3

Linked Data

• dbSNP Id: rs934134954
• gnomAD v2: 15-89424785-T-G
• gnomAD v3: 15-88881554-T-G
• gnomAD v4: 15-88881554-T-G
• MyVariant Identifiers: chr15:g.89424785T>G (hg19) ; chr15:g.88881554T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881554T>G , CM000677.2:g.88881554T>G	GRCh38
NC_000015.9:g.89424785T>G , CM000677.1:g.89424785T>G	GRCh37
NC_000015.8:g.87225789T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.296A>C MANE Select	ENSP00000352606.4:p.Lys99Thr
ENST00000359595.7:c.296A>C	ENSP00000352606.3:p.Lys99Thr
ENST00000558770.5:c.296A>C	ENSP00000456458.1:p.Lys99Thr
ENST00000562281.1:c.296A>C	ENSP00000456985.1:p.Lys99Thr
ENST00000562889.5:c.482A>C	ENSP00000457180.1:p.Lys161Thr
ENST00000563808.1:n.398A>C
NM_001307952.1:c.482A>C	NP_001294881.1:p.Lys161Thr
NM_178232.2:c.296A>C	NP_839946.1:p.Lys99Thr
NM_178232.3:c.296A>C	NP_839946.1:p.Lys99Thr
XM_011521261.1:c.428A>C	XP_011519563.1:p.Lys143Thr
XR_243204.1:n.511A>C
XR_931756.1:n.617A>C
XM_017021934.2:c.482A>C	XP_016877423.1:p.Lys161Thr
XM_017021935.2:c.-84A>C	XP_016877424.1:n.-84A>C
XM_017021936.2:c.-84A>C	XP_016877425.1:n.-84A>C
XR_001751098.2:n.629A>C
XR_931756.3:n.630A>C
NM_001307952.2:c.482A>C	NP_001294881.1:p.Lys161Thr
NM_178232.4:c.296A>C MANE Select	NP_839946.1:p.Lys99Thr