Canonical Allele Identifier: CA3266561

Gene: MCIDAS

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55220785G>A , CM000667.2:g.55220785G>A	GRCh38
NC_000005.9:g.54516613G>A , CM000667.1:g.54516613G>A	GRCh37
NC_000005.8:g.54552370G>A	NCBI36
NG_051620.1:g.11531C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001190787.3:c.739C>T MANE Select	NP_001177716.1:p.Arg247Trp
ENST00000513312.3:c.739C>T MANE Select	ENSP00000426359.1:p.Arg247Trp
NM_001190787.1:c.739C>T	NP_001177716.1:p.Arg247Trp
ENST00000513312.1:c.739C>T	ENSP00000426359.1:p.Arg247Trp
ENST00000513468.5:c.*203C>T	ENSP00000422165.1:n.*203C>T
XM_017009439.2:c.346C>T	XP_016864928.1:p.Arg116Trp