Canonical Allele Identifier: CA15361552
Gene: MACIR HGNC NCBI

Linked Data

dbSNP Id: rs2561477
gnomAD v2: 5-102608924-G-A
gnomAD v3: 5-103273223-G-A
gnomAD v4: 5-103273223-G-A
MyVariant Identifiers: chr5:g.102608924G>A (hg19) chr5:g.103273223G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.103273223G>A , CM000667.2:g.103273223G>A GRCh38
NC_000005.9:g.102608924G>A , CM000667.1:g.102608924G>A GRCh37
NC_000005.8:g.102636823G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000319933.7:c.-23-2674G>A MANE Select ENSP00000326110.2:n.-23-2674G>A
ENST00000319933.6:c.-23-2674G>A ENSP00000326110.2:n.-23-2674G>A
ENST00000510890.1:c.-23-2674G>A ENSP00000421270.1:n.-23-2674G>A
ENST00000515669.5:c.-23-2674G>A ENSP00000422836.1:n.-23-2674G>A
NM_001316968.1:c.-23-2674G>A NP_001303897.1:n.-23-2674G>A
NM_001316969.1:c.-23-2674G>A NP_001303898.1:n.-23-2674G>A
NM_033211.2:c.-23-2674G>A NP_149988.1:n.-23-2674G>A
NM_033211.3:c.-23-2674G>A NP_149988.1:n.-23-2674G>A
XM_005272125.1:c.-23-2674G>A XP_005272182.1:n.-23-2674G>A
NM_033211.4:c.-23-2674G>A MANE Select NP_149988.1:n.-23-2674G>A
NM_001316968.2:c.-23-2674G>A NP_001303897.1:n.-23-2674G>A
NM_001316969.2:c.-23-2674G>A NP_001303898.1:n.-23-2674G>A
NM_001377283.1:c.-23-2674G>A NP_001364212.1:n.-23-2674G>A
NM_001377284.1:c.-23-2674G>A NP_001364213.1:n.-23-2674G>A
NM_001377285.1:c.-23-2674G>A NP_001364214.1:n.-23-2674G>A
NM_001377286.1:c.-23-2674G>A NP_001364215.1:n.-23-2674G>A
NM_001377287.1:c.-23-2674G>A NP_001364216.1:n.-23-2674G>A
NM_001377288.1:c.-23-2674G>A NP_001364217.1:n.-23-2674G>A
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