Canonical Allele Identifier: CA490601356
Gene: MYO5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52319308G>C , CM000677.2:g.52319308G>C GRCh38
NC_000015.9:g.52611505G>C , CM000677.1:g.52611505G>C GRCh37
NC_000015.8:g.50398797G>C NCBI36
NG_009887.1:g.214743C>G , LRG_86:g.214743C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001382347.1:c.4986C>G MANE Select NP_001369276.1:p.Gly1662=
ENST00000399233.7:c.4986C>G MANE Select ENSP00000382179.4:p.Gly1662=
NM_000259.3:c.4911C>G , LRG_86t1:c.4911C>G NP_000250.3:p.Gly1637=
NM_001142495.1:c.4830C>G NP_001135967.1:p.Gly1610=
NM_001142495.2:c.4830C>G NP_001135967.2:p.Gly1610=
NM_001382348.1:c.5058C>G NP_001369277.1:p.Gly1686=
NM_001382349.1:c.4983C>G NP_001369278.1:p.Gly1661=
ENST00000356338.10:c.4830C>G ENSP00000348693.6:p.Gly1610=
ENST00000356338.11:c.4905C>G ENSP00000348693.7:p.Gly1635=
ENST00000358212.10:c.4911C>G ENSP00000350945.7:p.Gly1637=
ENST00000399228.6:c.1482C>G ENSP00000382174.2:n.1482C>G
ENST00000399229.6:c.1101C>G ENSP00000382175.2:p.Gly367=
ENST00000399229.7:c.1512C>G ENSP00000382175.3:p.Gly504=
ENST00000399231.7:c.4911C>G ENSP00000382177.3:p.Gly1637=
ENST00000399231.8:c.4911C>G ENSP00000382177.3:p.Gly1637=
ENST00000399233.6:c.4911C>G ENSP00000382179.3:p.Gly1637=
ENST00000465290.2:n.769C>G
ENST00000553916.5:c.4905C>G ENSP00000451109.1:p.Gly1635=
ENST00000553916.6:c.4869C>G ENSP00000451109.2:p.Gly1623=
ENST00000556196.6:c.*4514C>G ENSP00000451178.1:n.*4514C>G
ENST00000613858.4:c.4830C>G ENSP00000481420.1:p.Gly1610=
ENST00000685194.1:c.2466C>G ENSP00000509314.1:p.Gly822=
ENST00000686166.1:n.2511C>G
ENST00000686171.1:c.1110C>G ENSP00000509118.1:n.1110C>G
ENST00000686603.1:n.1181C>G
ENST00000686989.1:n.5196C>G
ENST00000687172.1:n.6712C>G
ENST00000687574.1:c.4830C>G ENSP00000510312.1:p.Gly1610=
ENST00000688074.1:c.2538C>G ENSP00000509404.1:p.Gly846=
ENST00000688792.1:n.3054C>G
ENST00000688798.1:c.1266C>G ENSP00000509340.1:n.1266C>G
ENST00000689601.1:n.3854C>G
ENST00000690802.1:n.537C>G
ENST00000692556.1:c.4902C>G ENSP00000510378.1:p.Gly1634=
ENST00000692646.1:c.2532C>G ENSP00000510243.1:p.Gly844=
ENST00000692874.1:n.1829C>G
XM_005254397.2:c.4986C>G XP_005254454.1:p.Gly1662=
XM_005254397.4:c.4986C>G XP_005254454.1:p.Gly1662=
XM_005254398.3:c.4986C>G XP_005254455.1:p.Gly1662=
XM_011521606.1:c.4992C>G XP_011519908.1:p.Gly1664=
XM_011521606.2:c.5058C>G XP_011519908.2:p.Gly1686=
XM_011521607.1:c.4983C>G XP_011519909.1:p.Gly1661=
XM_011521607.3:c.5049C>G XP_011519909.2:p.Gly1683=
XM_011521608.1:c.4917C>G XP_011519910.1:p.Gly1639=
XM_011521608.3:c.4983C>G XP_011519910.2:p.Gly1661=
XM_011521609.1:c.4911C>G XP_011519911.1:p.Gly1637=
XM_011521609.3:c.4977C>G XP_011519911.2:p.Gly1659=
XM_011521610.1:c.4908C>G XP_011519912.1:p.Gly1636=
XM_011521610.3:c.4974C>G XP_011519912.2:p.Gly1658=
XM_011521611.1:c.4836C>G XP_011519913.1:p.Gly1612=
XM_011521611.3:c.4902C>G XP_011519913.2:p.Gly1634=
XM_011521612.1:c.4827C>G XP_011519914.1:p.Gly1609=
XM_011521612.3:c.4893C>G XP_011519914.2:p.Gly1631=
XM_017022227.2:c.4950C>G XP_016877716.1:p.Gly1650=