Canonical Allele Identifier: CA379077854
Gene: MUC5B HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.1250169C>A
GRCh37 chr11:g.1271399C>A
Revel Score:
ENST00000529681 (MANE Select) 0.024
ENST00000447027 0.024
ENST00000349637 0.024
ENST00000406844 0.024
ENST00000535652 0.024
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1250169C>A , CM000673.2:g.1250169C>A GRCh38
NC_000011.9:g.1271399C>A , CM000673.1:g.1271399C>A GRCh37
NC_000011.8:g.1227975C>A NCBI36
NG_031880.1:g.32105C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529681.5:c.13289C>A MANE Select ENSP00000436812.1:p.Thr4430Lys
NM_002458.2:c.13289C>A NP_002449.2:p.Thr4430Lys
NM_002458.3:c.13289C>A MANE Select NP_002449.2:p.Thr4430Lys
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