Canonical Allele Identifier: CA7721043

Gene: HAPLN3

Linked Data

• dbSNP Id: rs145539372
• ExAC: 15:89424588 C / A
• gnomAD v2: 15-89424588-C-A
• gnomAD v3: 15-88881357-C-A
• gnomAD v4: 15-88881357-C-A
• MyVariant Identifiers: chr15:g.89424588C>A (hg19) ; chr15:g.88881357C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881357C>A , CM000677.2:g.88881357C>A	GRCh38
NC_000015.9:g.89424588C>A , CM000677.1:g.89424588C>A	GRCh37
NC_000015.8:g.87225592C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493G>T MANE Select	ENSP00000352606.4:p.Gly165Cys
ENST00000359595.7:c.493G>T	ENSP00000352606.3:p.Gly165Cys
ENST00000558770.5:c.493G>T	ENSP00000456458.1:p.Gly165Ter
ENST00000562281.1:c.493G>T	ENSP00000456985.1:p.Ala165Ser
ENST00000562889.5:c.679G>T	ENSP00000457180.1:p.Gly227Cys
ENST00000563808.1:n.595G>T
NM_001307952.1:c.679G>T	NP_001294881.1:p.Gly227Cys
NM_178232.2:c.493G>T	NP_839946.1:p.Gly165Cys
NM_178232.3:c.493G>T	NP_839946.1:p.Gly165Cys
XM_011521261.1:c.625G>T	XP_011519563.1:p.Gly209Cys
XR_243204.1:n.708G>T
XR_931756.1:n.814G>T
XM_017021934.2:c.679G>T	XP_016877423.1:p.Gly227Trp
XM_017021935.2:c.114G>T	XP_016877424.1:p.Gly38=
XM_017021936.2:c.114G>T	XP_016877425.1:p.Gly38=
XR_001751098.2:n.826G>T
XR_931756.3:n.827G>T
NM_001307952.2:c.679G>T	NP_001294881.1:p.Gly227Cys
NM_178232.4:c.493G>T MANE Select	NP_839946.1:p.Gly165Cys