Canonical Allele Identifier: CA2415902
Gene: HYAL1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50302327A>G , CM000665.2:g.50302327A>G GRCh38
NC_000003.11:g.50339758A>G , CM000665.1:g.50339758A>G GRCh37
NC_000003.10:g.50314762A>G NCBI36
NG_009295.1:g.15055T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395144.7:c.630T>C MANE Select ENSP00000378576.2:p.Tyr210=
ENST00000266031.8:c.630T>C ENSP00000266031.4:p.Tyr210=
ENST00000320295.12:c.630T>C ENSP00000346068.5:p.Tyr210=
ENST00000395143.6:c.630T>C ENSP00000378575.2:p.Tyr210=
ENST00000395144.6:c.630T>C ENSP00000378576.2:p.Tyr210=
ENST00000447605.2:c.-26-122T>C ENSP00000390149.2:n.-26-122T>C
ENST00000457214.6:c.84T>C ENSP00000393358.2:p.Tyr28=
ENST00000618175.4:c.630T>C ENSP00000477903.1:p.Tyr210=
NM_033159.3:c.630T>C NP_149349.2:p.Tyr210=
NM_153281.1:c.630T>C NP_695013.1:p.Tyr210=
NM_153282.2:c.630T>C NP_695014.1:p.Tyr210=
NM_153283.2:c.84T>C NP_695015.1:p.Tyr28=
NM_153285.2:c.-26-122T>C NP_695017.1:n.-26-122T>C
NR_047690.1:n.1275T>C
XM_011533667.1:c.630T>C XP_011531969.1:p.Tyr210=
XM_011533668.1:c.630T>C XP_011531970.1:p.Tyr210=
XM_011533669.1:c.630T>C XP_011531971.1:p.Tyr210=
XM_011533667.2:c.630T>C XP_011531969.1:p.Tyr210=
XM_011533668.2:c.630T>C XP_011531970.1:p.Tyr210=
XM_011533669.2:c.630T>C XP_011531971.1:p.Tyr210=
NM_033159.4:c.630T>C MANE Select NP_149349.2:p.Tyr210=
NM_153282.3:c.630T>C NP_695014.1:p.Tyr210=
NM_153283.3:c.84T>C NP_695015.1:p.Tyr28=
NM_153285.3:c.-26-122T>C NP_695017.1:n.-26-122T>C
NR_047690.2:n.1248T>C
NM_153281.2:c.630T>C NP_695013.1:p.Tyr210=