Canonical Allele Identifier: CA948006043
Gene: MIP HGNC NCBI

Linked Data

gnomAD v3: 12-56450032-A-C
gnomAD v4: 12-56450032-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56450032A>C , CM000674.2:g.56450032A>C GRCh38
NC_000012.11:g.56843816A>C , CM000674.1:g.56843816A>C GRCh37
NC_000012.10:g.55130083A>C NCBI36
NG_021397.1:g.9620T>G
NG_021397.2:g.24135T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648304.1:c.*1664T>G ENSP00000497190.1:n.*1664T>G
ENST00000652304.1:c.*1248T>G MANE Select ENSP00000498622.1:n.*1248T>G
ENST00000257979.4:c.*1248T>G ENSP00000257979.4:n.*1248T>G
NM_012064.3:c.*1248T>G NP_036196.1:n.*1248T>G
XM_011538354.1:c.*1248T>G XP_011536656.1:n.*1248T>G
NM_012064.4:c.*1248T>G MANE Select NP_036196.1:n.*1248T>G
XM_017019306.1:c.*1248T>G XP_016874795.1:n.*1248T>G
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