Canonical Allele Identifier: CA283511573
Community Standard Title: NM_001270974.2(HYDIN):c.12076G>A (p.Ala4026Thr)
Gene: HYDIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70860121C>T , CM000678.2:g.70860121C>T GRCh38
NC_000016.9:g.70894024C>T , CM000678.1:g.70894024C>T GRCh37
NG_033116.1:g.375602G>A
NG_033116.2:g.375602G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001270974.2:c.12076G>A MANE Select NP_001257903.1:p.Ala4026Thr
ENST00000393567.7:c.12076G>A MANE Select ENSP00000377197.2:p.Ala4026Thr
NM_001270974.1:c.12076G>A NP_001257903.1:p.Ala4026Thr
ENST00000378856.8:c.980G>A
ENST00000393567.6:c.12076G>A ENSP00000377197.2:p.Ala4026Thr
ENST00000546257.1:c.385G>A
XM_006721206.2:c.12127G>A XP_006721269.1:p.Ala4043Thr
XM_006721206.3:c.12127G>A XP_006721269.1:p.Ala4043Thr
XM_011523146.1:c.12259G>A XP_011521448.1:p.Ala4087Thr
XM_011523146.2:c.12259G>A XP_011521448.1:p.Ala4087Thr
XM_011523147.1:c.12229G>A XP_011521449.1:p.Ala4077Thr
XM_011523148.1:c.12178G>A XP_011521450.1:p.Ala4060Thr
XM_011523149.1:c.12178G>A XP_011521451.1:p.Ala4060Thr
XM_011523150.1:c.12178G>A XP_011521452.1:p.Ala4060Thr
XM_011523151.1:c.12157G>A XP_011521453.1:p.Ala4053Thr
XM_011523151.2:c.12157G>A XP_011521453.1:p.Ala4053Thr
XM_011523152.1:c.5938G>A XP_011521454.1:p.Ala1980Thr
XM_011523153.1:c.5464G>A XP_011521455.1:p.Ala1822Thr
XM_011523154.1:c.5056G>A XP_011521456.1:p.Ala1686Thr
XM_011523155.1:c.4966G>A XP_011521457.1:p.Ala1656Thr
XM_011523155.2:c.4966G>A XP_011521457.1:p.Ala1656Thr
XM_017023346.2:c.12196G>A XP_016878835.1:p.Ala4066Thr
XM_017023347.1:c.10288G>A XP_016878836.1:p.Ala3430Thr
XM_017023348.1:c.10288G>A XP_016878837.1:p.Ala3430Thr