Canonical Allele Identifier: CA12943398
Gene: MED30 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117537137T>C , CM000670.2:g.117537137T>C GRCh38
NC_000008.10:g.118549376T>C , CM000670.1:g.118549376T>C GRCh37
NC_000008.9:g.118618557T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297347.7:c.442-2746T>C MANE Select ENSP00000297347.3:n.442-2746T>C
ENST00000519391.1:n.465-2746T>C
ENST00000522839.1:c.337-2746T>C ENSP00000431051.1:n.337-2746T>C
NM_001282986.1:c.337-2746T>C NP_001269915.1:n.337-2746T>C
NM_080651.3:c.442-2746T>C NP_542382.1:n.442-2746T>C
NM_001363182.1:c.*1004T>C NP_001350111.1:n.*1004T>C
NM_080651.4:c.442-2746T>C MANE Select NP_542382.1:n.442-2746T>C
NM_001363182.2:c.*1004T>C NP_001350111.1:n.*1004T>C
NM_001282986.2:c.337-2746T>C NP_001269915.1:n.337-2746T>C
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