Canonical Allele Identifier: CA1003228

Gene: CHIA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111310472C>T , CM000663.2:g.111310472C>T	GRCh38
NC_000001.10:g.111853094C>T , CM000663.1:g.111853094C>T	GRCh37
NC_000001.9:g.111654617C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369740.6:c.5C>T MANE Select	ENSP00000358755.1:p.Thr2Ile
ENST00000343320.10:c.5C>T	ENSP00000341828.6:p.Thr2Ile
ENST00000352594.10:c.-118C>T	ENSP00000271312.8:n.-118C>T
ENST00000353665.10:c.-250C>T	ENSP00000338970.7:n.-250C>T
ENST00000369740.5:c.5C>T	ENSP00000358755.1:p.Thr2Ile
ENST00000422815.5:c.90-4068C>T	ENSP00000387671.1:n.90-4068C>T
ENST00000451398.6:c.-111C>T	ENSP00000390476.2:n.-111C>T
ENST00000477918.6:n.12C>T
ENST00000483391.5:c.-60-4068C>T	ENSP00000436946.1:n.-60-4068C>T
ENST00000489524.5:c.-111C>T	ENSP00000433309.1:n.-111C>T
NM_001040623.2:c.-111C>T	NP_001035713.1:n.-111C>T
NM_001258001.1:c.-118C>T	NP_001244930.1:n.-118C>T
NM_001258002.1:c.-60-4068C>T	NP_001244931.1:n.-60-4068C>T
NM_001258003.1:c.-97-1217C>T	NP_001244932.1:n.-97-1217C>T
NM_001258004.1:c.-416C>T	NP_001244933.1:n.-416C>T
NM_001258005.1:c.-250C>T	NP_001244934.1:n.-250C>T
NM_021797.3:c.-67-4068C>T	NP_068569.2:n.-67-4068C>T
NM_201653.3:c.5C>T	NP_970615.2:p.Thr2Ile
XM_006710577.2:c.-111C>T	XP_006710640.1:n.-111C>T
XM_006710577.3:c.-111C>T	XP_006710640.1:n.-111C>T
XM_017001048.1:c.-118C>T	XP_016856537.1:n.-118C>T
NM_201653.4:c.5C>T MANE Select	NP_970615.2:p.Thr2Ile
NM_001040623.3:c.-111C>T	NP_001035713.1:n.-111C>T
NM_001258001.2:c.-118C>T	NP_001244930.1:n.-118C>T
NM_001258002.2:c.-60-4068C>T	NP_001244931.1:n.-60-4068C>T
NM_001258003.2:c.-97-1217C>T	NP_001244932.1:n.-97-1217C>T
NM_001258004.2:c.-416C>T	NP_001244933.1:n.-416C>T
NM_001258005.2:c.-250C>T	NP_001244934.1:n.-250C>T
NM_021797.4:c.-67-4068C>T	NP_068569.2:n.-67-4068C>T