Canonical Allele Identifier: CA287720674
Community Standard Title: NM_002472.3(MYH8):c.4962+137T>C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10394996A>G , CM000679.2:g.10394996A>G GRCh38
NC_000017.10:g.10298313A>G , CM000679.1:g.10298313A>G GRCh37
NC_000017.9:g.10239038A>G NCBI36
NG_013015.1:g.31955T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002472.3:c.4962+137T>C (MYH8) MANE Select NP_002463.2:n.4962+137T>C
ENST00000403437.2:c.4962+137T>C (MYH8) MANE Select ENSP00000384330.2:n.4962+137T>C
NM_002472.2:c.4962+137T>C (MYH8) NP_002463.2:n.4962+137T>C
NR_125367.1:n.77-11152A>G (MYHAS)
XM_011523873.1:c.5058+137T>C (MYH8) XP_011522175.1:n.5058+137T>C
XM_011523874.1:c.5058+137T>C (MYH8) XP_011522176.1:n.5058+137T>C