Canonical Allele Identifier: CA3266605
Gene: MCIDAS HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.55227016C>T
GRCh37 chr5:g.54522844C>T
gnomAD v2:
5:54522844 C / T
gnomAD v3:
5:55227016 C / T
gnomAD v4:
chr5-55227016-C-T
Joint Max Group AF 0.02597466 (MID)
Genomes Max Group AF 0.00447583 (NFE)
Exomes Max Group AF 0.02432913 (MID)
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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
Search 100 bp 5'
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