Canonical Allele Identifier: CA9593896
Community Standard Title: NM_001145809.2(MYH14):c.5788-41A>G
Gene: MYH14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50308964A>G , CM000681.2:g.50308964A>G GRCh38
NC_000019.9:g.50812221A>G , CM000681.1:g.50812221A>G GRCh37
NC_000019.8:g.55504033A>G NCBI36
NG_011645.1:g.110337A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001145809.2:c.5788-41A>G MANE Select NP_001139281.1:n.5788-41A>G
ENST00000642316.2:c.5788-41A>G MANE Select ENSP00000493594.1:n.5788-41A>G
NM_001077186.1:c.5689-41A>G NP_001070654.1:n.5689-41A>G
NM_001077186.2:c.5689-41A>G NP_001070654.1:n.5689-41A>G
NM_001145809.1:c.5788-41A>G NP_001139281.1:n.5788-41A>G
NM_024729.3:c.5665-41A>G NP_079005.3:n.5665-41A>G
NM_024729.4:c.5665-41A>G NP_079005.3:n.5665-41A>G
ENST00000262269.12:c.*1149-41A>G ENSP00000262269.9:n.*1149-41A>G
ENST00000376970.6:c.5665-41A>G ENSP00000366169.3:n.5665-41A>G
ENST00000425460.5:c.5689-41A>G ENSP00000407879.1:n.5689-41A>G
ENST00000425460.6:c.5689-41A>G ENSP00000407879.1:n.5689-41A>G
ENST00000440075.6:c.1594-41A>G ENSP00000406273.3:n.1594-41A>G
ENST00000595016.1:n.2967-41A>G
ENST00000596571.5:c.5665-41A>G ENSP00000472819.1:n.5665-41A>G
ENST00000597072.1:n.650A>G
ENST00000598205.5:c.5689-41A>G ENSP00000472543.1:n.5689-41A>G
ENST00000601313.5:c.5788-41A>G ENSP00000470298.1:n.5788-41A>G
XM_006723386.2:c.5689-41A>G XP_006723449.1:n.5689-41A>G
XM_006723386.4:c.5689-41A>G XP_006723449.1:n.5689-41A>G
XM_011527320.1:c.5809-41A>G XP_011525622.1:n.5809-41A>G
XM_011527320.2:c.5809-41A>G XP_011525622.1:n.5809-41A>G
XM_011527321.1:c.5785-41A>G XP_011525623.1:n.5785-41A>G
XM_011527321.2:c.5785-41A>G XP_011525623.1:n.5785-41A>G
XM_011527322.1:c.5713-41A>G XP_011525624.1:n.5713-41A>G
XM_011527323.1:c.5689-41A>G XP_011525625.1:n.5689-41A>G
XM_011527323.2:c.5689-41A>G XP_011525625.1:n.5689-41A>G
XM_024451721.1:c.5665-41A>G XP_024307489.1:n.5665-41A>G