Canonical Allele Identifier: CA2679452889
Gene: MYO6 HGNC NCBI

Linked Data

gnomAD v4: 6-75844981-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75844981T>C , CM000668.2:g.75844981T>C GRCh38
NC_000006.11:g.76554698T>C , CM000668.1:g.76554698T>C GRCh37
NC_000006.10:g.76611418T>C NCBI36
NG_009934.1:g.100790T>C
NG_009934.2:g.100789T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369975.6:c.897+4T>C ENSP00000358992.1:n.897+4T>C
ENST00000369977.8:c.897+4T>C MANE Select ENSP00000358994.3:n.897+4T>C
ENST00000369985.9:c.897+4T>C ENSP00000359002.3:n.897+4T>C
ENST00000462633.3:c.*443T>C ENSP00000499616.2:n.*443T>C
ENST00000627432.3:c.897+4T>C ENSP00000487348.2:n.897+4T>C
ENST00000653423.1:c.897+4T>C ENSP00000499696.1:n.897+4T>C
ENST00000653917.1:c.897+4T>C ENSP00000499623.1:n.897+4T>C
ENST00000660420.1:c.*853+4T>C ENSP00000499263.1:n.*853+4T>C
ENST00000662184.1:c.817-3370T>C ENSP00000499732.1:n.817-3370T>C
ENST00000662603.1:c.897+4T>C ENSP00000499324.1:n.897+4T>C
ENST00000663400.1:c.897+4T>C ENSP00000499736.1:n.897+4T>C
ENST00000664209.1:c.897+4T>C ENSP00000499768.1:n.897+4T>C
ENST00000664640.1:c.897+4T>C ENSP00000499278.1:n.897+4T>C
ENST00000671923.1:c.897+4T>C ENSP00000500835.1:n.897+4T>C
ENST00000672093.1:c.897+4T>C ENSP00000500710.1:n.897+4T>C
ENST00000369975.5:c.897+4T>C ENSP00000358992.1:n.897+4T>C
ENST00000369977.7:c.897+4T>C ENSP00000358994.3:n.897+4T>C
ENST00000369981.7:c.897+4T>C ENSP00000358998.4:n.897+4T>C
ENST00000369985.8:c.897+4T>C ENSP00000359002.3:n.897+4T>C
ENST00000615563.4:c.897+4T>C ENSP00000478013.1:n.897+4T>C
ENST00000627432.2:c.897+4T>C ENSP00000487348.1:n.897+4T>C
NM_001300899.1:c.897+4T>C NP_001287828.1:n.897+4T>C
NM_004999.3:c.897+4T>C NP_004990.3:n.897+4T>C
XM_005248719.2:c.897+4T>C XP_005248776.1:n.897+4T>C
XM_005248720.2:c.897+4T>C XP_005248777.1:n.897+4T>C
XM_005248721.2:c.897+4T>C XP_005248778.1:n.897+4T>C
XM_005248722.2:c.897+4T>C XP_005248779.1:n.897+4T>C
XM_005248724.2:c.897+4T>C XP_005248781.1:n.897+4T>C
XM_005248726.2:c.897+4T>C XP_005248783.1:n.897+4T>C
XM_005248719.4:c.897+4T>C XP_005248776.1:n.897+4T>C
XM_005248720.4:c.897+4T>C XP_005248777.1:n.897+4T>C
XM_005248721.4:c.897+4T>C XP_005248778.1:n.897+4T>C
XM_005248722.4:c.897+4T>C XP_005248779.1:n.897+4T>C
XM_005248724.4:c.897+4T>C XP_005248781.1:n.897+4T>C
XM_005248726.4:c.897+4T>C XP_005248783.1:n.897+4T>C
XM_017010899.2:c.897+4T>C XP_016866388.1:n.897+4T>C
XM_024446447.1:c.897+4T>C XP_024302215.1:n.897+4T>C
XM_024446448.1:c.897+4T>C XP_024302216.1:n.897+4T>C
NM_004999.4:c.897+4T>C MANE Select NP_004990.3:n.897+4T>C
NM_001300899.2:c.897+4T>C NP_001287828.1:n.897+4T>C
NM_001368136.1:c.897+4T>C NP_001355065.1:n.897+4T>C
NM_001368137.1:c.897+4T>C NP_001355066.1:n.897+4T>C
NM_001368138.1:c.882+4T>C NP_001355067.1:n.882+4T>C
NM_001368865.1:c.897+4T>C NP_001355794.1:n.897+4T>C
NM_001368866.1:c.897+4T>C NP_001355795.1:n.897+4T>C
NR_160538.1:n.1129+4T>C