Canonical Allele Identifier: CA3266554

Gene: MCIDAS

Linked Data

• ClinVar Variation Id: 403074
• ClinVar RCV Id: RCV000455547 ; RCV001516801 ; RCV001613275 ; RCV001775795
• dbSNP Id: rs6879219
• ExAC: 5:54516521 G / A
• gnomAD v2: 5-54516521-G-A
• gnomAD v3: 5-55220693-G-A
• gnomAD v4: 5-55220693-G-A
• MyVariant Identifiers: chr5:g.54516521G>A (hg19) ; chr5:g.55220693G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55220693G>A , CM000667.2:g.55220693G>A	GRCh38
NC_000005.9:g.54516521G>A , CM000667.1:g.54516521G>A	GRCh37
NC_000005.8:g.54552278G>A	NCBI36
NG_051620.1:g.11623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513312.3:c.831C>T MANE Select	ENSP00000426359.1:p.Cys277=
ENST00000513312.1:c.831C>T	ENSP00000426359.1:p.Cys277=
ENST00000513468.5:c.*295C>T	ENSP00000422165.1:n.*295C>T
NM_001190787.1:c.831C>T	NP_001177716.1:p.Cys277=
XM_017009439.2:c.438C>T	XP_016864928.1:p.Cys146=
NM_001190787.3:c.831C>T MANE Select	NP_001177716.1:p.Cys277=