Canonical Allele Identifier: CA393733600

Gene: HAPLN3

Linked Data

• MyVariant Identifiers: chr15:g.89424693A>T (hg19) ; chr15:g.88881462A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881462A>T , CM000677.2:g.88881462A>T	GRCh38
NC_000015.9:g.89424693A>T , CM000677.1:g.89424693A>T	GRCh37
NC_000015.8:g.87225697A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.388T>A MANE Select	ENSP00000352606.4:p.Ser130Thr
ENST00000359595.7:c.388T>A	ENSP00000352606.3:p.Ser130Thr
ENST00000558770.5:c.388T>A	ENSP00000456458.1:p.Ser130Thr
ENST00000562281.1:c.388T>A	ENSP00000456985.1:p.Ser130Thr
ENST00000562889.5:c.574T>A	ENSP00000457180.1:p.Ser192Thr
ENST00000563808.1:n.490T>A
NM_001307952.1:c.574T>A	NP_001294881.1:p.Ser192Thr
NM_178232.2:c.388T>A	NP_839946.1:p.Ser130Thr
NM_178232.3:c.388T>A	NP_839946.1:p.Ser130Thr
XM_011521261.1:c.520T>A	XP_011519563.1:p.Ser174Thr
XR_243204.1:n.603T>A
XR_931756.1:n.709T>A
XM_017021934.2:c.574T>A	XP_016877423.1:p.Ser192Thr
XM_017021935.2:c.9T>A	XP_016877424.1:p.Ser3=
XM_017021936.2:c.9T>A	XP_016877425.1:p.Ser3=
XR_001751098.2:n.721T>A
XR_931756.3:n.722T>A
NM_001307952.2:c.574T>A	NP_001294881.1:p.Ser192Thr
NM_178232.4:c.388T>A MANE Select	NP_839946.1:p.Ser130Thr