Canonical Allele Identifier: CA323585128
Community Standard Title: NM_002473.6(MYH9):c.5765+211T>C
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36283882A>G , CM000684.2:g.36283882A>G GRCh38
NC_000022.10:g.36679928A>G , CM000684.1:g.36679928A>G GRCh37
NC_000022.9:g.35009874A>G NCBI36
NG_011884.2:g.109137T>C , LRG_567:g.109137T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.5765+211T>C MANE Select NP_002464.1:n.5765+211T>C
ENST00000216181.11:c.5765+211T>C MANE Select ENSP00000216181.6:n.5765+211T>C
NM_002473.5:c.5765+211T>C , LRG_567t1:c.5765+211T>C NP_002464.1:n.5765+211T>C
ENST00000216181.9:c.5765+211T>C ENSP00000216181.5:n.5765+211T>C
ENST00000685708.1:n.2198+211T>C
ENST00000685801.1:c.5828+211T>C ENSP00000510688.1:n.5828+211T>C
ENST00000690244.1:n.1101+211T>C
ENST00000691109.1:n.6060+211T>C
XM_011530197.1:c.5765+211T>C XP_011528499.1:n.5765+211T>C
XM_011530197.2:c.5765+211T>C XP_011528499.1:n.5765+211T>C
XM_017028803.1:c.5765+211T>C XP_016884292.1:n.5765+211T>C
XM_017028804.1:c.5765+211T>C XP_016884293.1:n.5765+211T>C
XM_017028805.1:c.5765+211T>C XP_016884294.1:n.5765+211T>C
XM_017028806.1:c.5765+211T>C XP_016884295.1:n.5765+211T>C