Canonical Allele Identifier: CA2415743

Gene: HYAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50300750G>A , CM000665.2:g.50300750G>A	GRCh38
NC_000003.11:g.50338181G>A , CM000665.1:g.50338181G>A	GRCh37
NC_000003.10:g.50313185G>A	NCBI36
NG_009295.1:g.16632C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033159.4:c.1041C>T MANE Select	NP_149349.2:p.Phe347=
ENST00000395144.7:c.1041C>T MANE Select	ENSP00000378576.2:p.Phe347=
NM_033159.3:c.1041C>T	NP_149349.2:p.Phe347=
NM_153281.1:c.1041C>T	NP_695013.1:p.Phe347=
NM_153281.2:c.1041C>T	NP_695013.1:p.Phe347=
NM_153282.2:c.951C>T	NP_695014.1:p.Phe317=
NM_153282.3:c.951C>T	NP_695014.1:p.Phe317=
NM_153283.2:c.495C>T	NP_695015.1:p.Phe165=
NM_153283.3:c.495C>T	NP_695015.1:p.Phe165=
NM_153285.2:c.264C>T	NP_695017.1:p.Phe88=
NM_153285.3:c.264C>T	NP_695017.1:p.Phe88=
NR_047690.1:n.1686C>T
NR_047690.2:n.1659C>T
ENST00000266031.8:c.1041C>T	ENSP00000266031.4:p.Phe347=
ENST00000320295.12:c.1041C>T	ENSP00000346068.5:p.Phe347=
ENST00000395143.6:c.951C>T	ENSP00000378575.2:p.Phe317=
ENST00000395144.6:c.1041C>T	ENSP00000378576.2:p.Phe347=
ENST00000447605.2:c.264C>T	ENSP00000390149.2:p.Phe88=
ENST00000457214.6:c.495C>T	ENSP00000393358.2:p.Phe165=
ENST00000618175.4:c.1041C>T	ENSP00000477903.1:p.Phe347=
XM_011533667.1:c.1041C>T	XP_011531969.1:p.Phe347=
XM_011533667.2:c.1041C>T	XP_011531969.1:p.Phe347=
XM_011533668.1:c.1041C>T	XP_011531970.1:p.Phe347=
XM_011533668.2:c.1041C>T	XP_011531970.1:p.Phe347=
XM_011533669.1:c.1041C>T	XP_011531971.1:p.Phe347=
XM_011533669.2:c.1041C>T	XP_011531971.1:p.Phe347=