Canonical Allele Identifier: CA4463727

Gene: HYAL4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.123868319C>T , CM000669.2:g.123868319C>T	GRCh38
NC_000007.13:g.123508373C>T , CM000669.1:g.123508373C>T	GRCh37
NC_000007.12:g.123295609C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_012269.3:c.46C>T MANE Select	NP_036401.2:p.Pro16Ser
ENST00000223026.9:c.46C>T MANE Select	ENSP00000223026.4:p.Pro16Ser
NM_012269.2:c.46C>T	NP_036401.2:p.Pro16Ser
ENST00000223026.8:c.46C>T	ENSP00000223026.4:p.Pro16Ser
ENST00000476325.5:c.46C>T	ENSP00000417186.1:p.Pro16Ser
ENST00000483878.1:c.46C>T	ENSP00000420264.1:p.Pro16Ser
ENST00000488323.5:c.46C>T	ENSP00000417872.1:p.Pro16Ser
ENST00000489978.5:c.46C>T	ENSP00000419522.1:p.Pro16Ser
XM_011515990.1:c.46C>T	XP_011514292.1:p.Pro16Ser
XM_011515990.2:c.46C>T	XP_011514292.1:p.Pro16Ser
XM_011515991.1:c.46C>T	XP_011514293.1:p.Pro16Ser
XM_011515992.1:c.46C>T	XP_011514294.1:p.Pro16Ser
XM_017011911.1:c.46C>T	XP_016867400.1:p.Pro16Ser
XM_024446703.1:c.46C>T	XP_024302471.1:p.Pro16Ser
XR_002956416.1:n.522C>T
XR_927425.1:n.338C>T