Canonical Allele Identifier: CA1003598

Gene: CHIA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111318568C>T , CM000663.2:g.111318568C>T	GRCh38
NC_000001.10:g.111861190C>T , CM000663.1:g.111861190C>T	GRCh37
NC_000001.9:g.111662713C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_201653.4:c.805C>T MANE Select	NP_970615.2:p.His269Tyr
ENST00000369740.6:c.805C>T MANE Select	ENSP00000358755.1:p.His269Tyr
NM_001040623.2:c.322C>T	NP_001035713.1:p.His108Tyr
NM_001040623.3:c.322C>T	NP_001035713.1:p.His108Tyr
NM_001258001.1:c.481C>T	NP_001244930.1:p.His161Tyr
NM_001258001.2:c.481C>T	NP_001244930.1:p.His161Tyr
NM_001258002.1:c.322C>T	NP_001244931.1:p.His108Tyr
NM_001258002.2:c.322C>T	NP_001244931.1:p.His108Tyr
NM_001258003.1:c.481C>T	NP_001244932.1:p.His161Tyr
NM_001258003.2:c.481C>T	NP_001244932.1:p.His161Tyr
NM_001258004.1:c.322C>T	NP_001244933.1:p.His108Tyr
NM_001258004.2:c.322C>T	NP_001244933.1:p.His108Tyr
NM_001258005.1:c.322C>T	NP_001244934.1:p.His108Tyr
NM_001258005.2:c.322C>T	NP_001244934.1:p.His108Tyr
NM_021797.3:c.481C>T	NP_068569.2:p.His161Tyr
NM_021797.4:c.481C>T	NP_068569.2:p.His161Tyr
NM_201653.3:c.805C>T	NP_970615.2:p.His269Tyr
ENST00000343320.10:c.805C>T	ENSP00000341828.6:p.His269Tyr
ENST00000352594.10:c.*314C>T	ENSP00000271312.8:n.*314C>T
ENST00000353665.10:c.322C>T	ENSP00000338970.7:p.His108Tyr
ENST00000369740.5:c.805C>T	ENSP00000358755.1:p.His269Tyr
ENST00000422815.5:c.637C>T	ENSP00000387671.1:p.His213Tyr
ENST00000430615.1:c.481C>T	ENSP00000391132.1:p.His161Tyr
ENST00000451398.6:c.322C>T	ENSP00000390476.2:p.His108Tyr
ENST00000477918.6:n.3528C>T
ENST00000483391.5:c.322C>T	ENSP00000436946.1:p.His108Tyr
ENST00000489524.5:c.322C>T	ENSP00000433309.1:p.His108Tyr
XM_006710577.2:c.322C>T	XP_006710640.1:p.His108Tyr
XM_006710577.3:c.322C>T	XP_006710640.1:p.His108Tyr
XM_017001047.1:c.322C>T	XP_016856536.1:p.His108Tyr
XM_017001048.1:c.481C>T	XP_016856537.1:p.His161Tyr