Canonical Allele Identifier: CA200475235
Community Standard Title: NM_000755.5(CRAT):c.1721A>G (p.Tyr574Cys)
Gene: CRAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129095557T>C , CM000671.2:g.129095557T>C GRCh38
NC_000009.11:g.131857836T>C , CM000671.1:g.131857836T>C GRCh37
NC_000009.10:g.130897657T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_000755.5:c.1721A>G MANE Select NP_000746.3:p.Tyr574Cys
ENST00000318080.7:c.1721A>G MANE Select ENSP00000315013.2:p.Tyr574Cys
NM_000755.3:c.1721A>G NP_000746.2:p.Tyr574Cys
NM_000755.4:c.1721A>G NP_000746.2:p.Tyr574Cys
NM_001257363.1:c.1658A>G NP_001244292.1:p.Tyr553Cys
NM_001257363.2:c.1658A>G NP_001244292.1:p.Tyr553Cys
NM_001257363.3:c.1658A>G NP_001244292.2:p.Tyr553Cys
NM_001346546.1:c.1724A>G NP_001333475.1:p.Tyr575Cys
NM_001346546.2:c.1724A>G NP_001333475.2:p.Tyr575Cys
NM_001346547.1:c.1649A>G NP_001333476.1:p.Tyr550Cys
NM_001346547.2:c.1649A>G NP_001333476.2:p.Tyr550Cys
NM_001346548.1:c.1586A>G NP_001333477.1:p.Tyr529Cys
NM_001346548.2:c.1586A>G NP_001333477.2:p.Tyr529Cys
NM_001346549.1:c.1601A>G NP_001333478.1:p.Tyr534Cys
NM_001346549.2:c.1601A>G NP_001333478.2:p.Tyr534Cys
NM_004003.3:c.1658A>G NP_003994.2:p.Tyr553Cys
NM_004003.4:c.1658A>G NP_003994.3:p.Tyr553Cys
ENST00000318080.6:c.1721A>G ENSP00000315013.2:p.Tyr574Cys
ENST00000455396.1:c.444A>G
ENST00000455396.2:c.1601A>G ENSP00000395458.2:p.Tyr534Cys
ENST00000458362.5:c.*1697A>G ENSP00000400367.1:n.*1697A>G
ENST00000467343.1:n.298A>G
ENST00000679520.1:c.*1773A>G ENSP00000505259.1:n.*1773A>G
ENST00000679716.1:n.3715A>G
ENST00000680093.1:c.*907A>G ENSP00000506286.1:n.*907A>G
ENST00000680117.1:c.1666-61A>G ENSP00000505542.1:n.1666-61A>G
ENST00000680523.1:n.2703A>G
ENST00000681040.1:c.*1625A>G ENSP00000506678.1:n.*1625A>G
ENST00000681118.1:n.3187A>G
ENST00000681325.1:c.1496A>G ENSP00000506574.1:p.Tyr499Cys
ENST00000681622.1:c.*1977A>G ENSP00000505897.1:n.*1977A>G
ENST00000681627.1:c.1649A>G ENSP00000506267.1:p.Tyr550Cys
ENST00000681689.1:c.*1652A>G ENSP00000505435.1:n.*1652A>G
ENST00000681911.1:c.*1756A>G ENSP00000506533.1:n.*1756A>G
XM_005251706.2:c.1724A>G XP_005251763.1:p.Tyr575Cys
XM_005251708.2:c.1658A>G XP_005251765.1:p.Tyr553Cys
XM_005251708.4:c.1658A>G XP_005251765.1:p.Tyr553Cys
XM_017014275.1:c.1724A>G XP_016869764.1:p.Tyr575Cys
XM_024447414.1:c.1709A>G XP_024303182.1:p.Tyr570Cys