Canonical Allele Identifier: CA396591981
Community Standard Title: NM_001270974.2(HYDIN):c.14157T>G (p.Tyr4719Ter)
Gene: HYDIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70828385A>C , CM000678.2:g.70828385A>C GRCh38
NC_000016.9:g.70862288A>C , CM000678.1:g.70862288A>C GRCh37
NG_033116.1:g.407338T>G
NG_033116.2:g.407338T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001270974.2:c.14157T>G MANE Select NP_001257903.1:p.Tyr4719Ter
ENST00000393567.7:c.14157T>G MANE Select ENSP00000377197.2:p.Tyr4719Ter
NM_001270974.1:c.14157T>G NP_001257903.1:p.Tyr4719Ter
ENST00000378856.8:c.3061T>G
ENST00000393567.6:c.14157T>G ENSP00000377197.2:p.Tyr4719Ter
XM_006721206.2:c.14208T>G XP_006721269.1:p.Tyr4736Ter
XM_006721206.3:c.14208T>G XP_006721269.1:p.Tyr4736Ter
XM_011523146.1:c.14340T>G XP_011521448.1:p.Tyr4780Ter
XM_011523146.2:c.14340T>G XP_011521448.1:p.Tyr4780Ter
XM_011523147.1:c.14310T>G XP_011521449.1:p.Tyr4770Ter
XM_011523148.1:c.14259T>G XP_011521450.1:p.Tyr4753Ter
XM_011523149.1:c.14259T>G XP_011521451.1:p.Tyr4753Ter
XM_011523150.1:c.14259T>G XP_011521452.1:p.Tyr4753Ter
XM_011523151.1:c.14238T>G XP_011521453.1:p.Tyr4746Ter
XM_011523151.2:c.14238T>G XP_011521453.1:p.Tyr4746Ter
XM_011523152.1:c.8019T>G XP_011521454.1:p.Tyr2673Ter
XM_011523153.1:c.7545T>G XP_011521455.1:p.Tyr2515Ter
XM_011523154.1:c.7137T>G XP_011521456.1:p.Tyr2379Ter
XM_011523155.1:c.7047T>G XP_011521457.1:p.Tyr2349Ter
XM_011523155.2:c.7047T>G XP_011521457.1:p.Tyr2349Ter
XM_017023346.2:c.14277T>G XP_016878835.1:p.Tyr4759Ter
XM_017023347.1:c.12369T>G XP_016878836.1:p.Tyr4123Ter
XM_017023348.1:c.12369T>G XP_016878837.1:p.Tyr4123Ter