Canonical Allele Identifier: CA3266605

Gene: MCIDAS

Linked Data

• ClinVar Variation Id: 238618
• ClinVar RCV Id: RCV000232005 ; RCV002272187 ; RCV003430780
• dbSNP Id: rs186341559
• ExAC: 5:54522844 C / T
• gnomAD v2: 5-54522844-C-T
• gnomAD v3: 5-55227016-C-T
• gnomAD v4: 5-55227016-C-T
• MyVariant Identifiers: chr5:g.54522844C>T (hg19) ; chr5:g.55227016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55227016C>T , CM000667.2:g.55227016C>T	GRCh38
NC_000005.9:g.54522844C>T , CM000667.1:g.54522844C>T	GRCh37
NC_000005.8:g.54558601C>T	NCBI36
NG_051620.1:g.5300G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000513312.3:c.120+3G>A MANE Select	ENSP00000426359.1:n.120+3G>A
ENST00000513312.1:c.120+3G>A	ENSP00000426359.1:n.120+3G>A
ENST00000513468.5:c.120+3G>A	ENSP00000422165.1:n.120+3G>A
ENST00000515336.1:n.58-85G>A
NM_001190787.1:c.120+3G>A	NP_001177716.1:n.120+3G>A
NM_001190787.3:c.120+3G>A MANE Select	NP_001177716.1:n.120+3G>A