Canonical Allele Identifier: CA6191194
Gene: MAP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.75587752A>G , CM000673.2:g.75587752A>G GRCh38
NC_000011.9:g.75298797A>G , CM000673.1:g.75298797A>G GRCh37
NC_000011.8:g.74976445A>G NCBI36
NG_052841.1:g.88357T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304771.8:c.1749T>C MANE Select ENSP00000307093.3:p.Asp583=
ENST00000304771.7:c.1749T>C ENSP00000307093.3:p.Asp583=
ENST00000526740.3:c.762T>C ENSP00000434278.1:p.Asp254=
NM_033063.1:c.1749T>C NP_149052.1:p.Asp583=
XM_011545037.1:c.846T>C XP_011543339.1:p.Asp282=
XM_011545038.1:c.762T>C XP_011543340.1:p.Asp254=
XR_950315.1:n.86+4471A>G
NR_145823.1:n.86+4471A>G
XM_017017755.2:c.1797T>C XP_016873244.1:p.Asp599=
XM_017017756.1:c.894T>C XP_016873245.1:p.Asp298=
XM_017017757.1:c.846T>C XP_016873246.1:p.Asp282=
XM_017017758.1:c.810T>C XP_016873247.1:p.Asp270=
NM_033063.2:c.1749T>C MANE Select NP_149052.1:p.Asp583=