Canonical Allele Identifier: CA345530456

Gene: AHCTF1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.246862021G>A , CM000663.2:g.246862021G>A	GRCh38
NC_000001.10:g.247025323G>A , CM000663.1:g.247025323G>A	GRCh37
NC_000001.9:g.245091946G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001323342.2:c.3673C>T MANE Select	NP_001310271.1:p.Arg1225Ter
ENST00000648844.2:c.3673C>T MANE Select	ENSP00000497061.2:p.Arg1225Ter
NM_001323342.1:c.3673C>T	NP_001310271.1:p.Arg1225Ter
NM_001323343.1:c.3673C>T	NP_001310272.1:p.Arg1225Ter
NM_001323343.2:c.3673C>T	NP_001310272.1:p.Arg1225Ter
NM_015446.4:c.3700C>T	NP_056261.4:p.Arg1234Ter
NM_015446.5:c.3700C>T	NP_056261.4:p.Arg1234Ter
NR_136586.1:n.4081C>T
NR_136586.2:n.4051C>T
ENST00000326225.3:c.3700C>T	ENSP00000355465.1:p.Arg1234Ter
ENST00000366508.5:c.3778C>T	ENSP00000355464.1:p.Arg1260Ter
ENST00000470300.5:n.2288C>T
ENST00000477526.1:n.508C>T
ENST00000483900.1:n.855C>T
XM_006711758.1:c.3778C>T	XP_006711821.1:p.Arg1260Ter
XM_006711759.1:c.3673C>T	XP_006711822.1:p.Arg1225Ter
XM_011544156.1:c.3778C>T	XP_011542458.1:p.Arg1260Ter
XM_011544156.2:c.3673C>T	XP_011542458.2:p.Arg1225Ter
XM_011544157.1:c.3778C>T	XP_011542459.1:p.Arg1260Ter
XM_011544157.3:c.3673C>T	XP_011542459.2:p.Arg1225Ter
XR_426916.1:n.3910C>T
XR_426916.2:n.3776C>T
XR_949136.1:n.3910C>T
XR_949136.3:n.3777C>T