Canonical Allele Identifier: CA14395691
Community Standard Title: NM_002472.3(MYH8):c.2433-166T>C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10404751A>G , CM000679.2:g.10404751A>G GRCh38
NC_000017.10:g.10308068A>G , CM000679.1:g.10308068A>G GRCh37
NC_000017.9:g.10248793A>G NCBI36
NG_013015.1:g.22200T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002472.3:c.2433-166T>C (MYH8) MANE Select NP_002463.2:n.2433-166T>C
ENST00000403437.2:c.2433-166T>C (MYH8) MANE Select ENSP00000384330.2:n.2433-166T>C
NM_002472.2:c.2433-166T>C (MYH8) NP_002463.2:n.2433-166T>C
NR_125367.1:n.77-1397A>G (MYHAS)
XM_011523873.1:c.2529-166T>C (MYH8) XP_011522175.1:n.2529-166T>C
XM_011523874.1:c.2529-166T>C (MYH8) XP_011522176.1:n.2529-166T>C