Canonical Allele Identifier: CA396614729
Community Standard Title: NM_001270974.2(HYDIN):c.8008C>T (p.Gln2670Ter)
Gene: HYDIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70908858G>A , CM000678.2:g.70908858G>A GRCh38
NC_000016.9:g.70942761G>A , CM000678.1:g.70942761G>A GRCh37
NG_033116.1:g.326865C>T
NG_033116.2:g.326865C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001270974.2:c.8008C>T MANE Select NP_001257903.1:p.Gln2670Ter
ENST00000393567.7:c.8008C>T MANE Select ENSP00000377197.2:p.Gln2670Ter
NM_001270974.1:c.8008C>T NP_001257903.1:p.Gln2670Ter
ENST00000309900.11:n.2461C>T
ENST00000393567.6:c.8008C>T ENSP00000377197.2:p.Gln2670Ter
XM_006721206.2:c.8059C>T XP_006721269.1:p.Gln2687Ter
XM_006721206.3:c.8059C>T XP_006721269.1:p.Gln2687Ter
XM_011523146.1:c.8191C>T XP_011521448.1:p.Gln2731Ter
XM_011523146.2:c.8191C>T XP_011521448.1:p.Gln2731Ter
XM_011523147.1:c.8161C>T XP_011521449.1:p.Gln2721Ter
XM_011523148.1:c.8110C>T XP_011521450.1:p.Gln2704Ter
XM_011523149.1:c.8110C>T XP_011521451.1:p.Gln2704Ter
XM_011523150.1:c.8110C>T XP_011521452.1:p.Gln2704Ter
XM_011523151.1:c.8089C>T XP_011521453.1:p.Gln2697Ter
XM_011523151.2:c.8089C>T XP_011521453.1:p.Gln2697Ter
XM_011523152.1:c.1870C>T XP_011521454.1:p.Gln624Ter
XM_011523153.1:c.1396C>T XP_011521455.1:p.Gln466Ter
XM_011523154.1:c.988C>T XP_011521456.1:p.Gln330Ter
XM_011523155.1:c.898C>T XP_011521457.1:p.Gln300Ter
XM_011523155.2:c.898C>T XP_011521457.1:p.Gln300Ter
XM_017023346.2:c.8128C>T XP_016878835.1:p.Gln2710Ter
XM_017023347.1:c.6220C>T XP_016878836.1:p.Gln2074Ter
XM_017023348.1:c.6220C>T XP_016878837.1:p.Gln2074Ter