Canonical Allele Identifier: CA3790506
Community Standard Title: NM_001206927.2(DNAH8):c.9574A>G (p.Met3192Val)
Gene: DNAH8 HGNC NCBI
DNAH8-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38909578A>G , CM000668.2:g.38909578A>G GRCh38
NC_000006.11:g.38877354A>G , CM000668.1:g.38877354A>G GRCh37
NC_000006.10:g.38985332A>G NCBI36
NG_041805.1:g.199238A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.9574A>G (DNAH8) MANE Select NP_001193856.1:p.Met3192Val
ENST00000327475.11:c.9574A>G (DNAH8) MANE Select ENSP00000333363.7:p.Met3192Val
NM_001206927.1:c.9574A>G (DNAH8) NP_001193856.1:p.Met3192Val
NM_001371.3:c.8923A>G (DNAH8) NP_001362.2:p.Met2975Val
NM_001371.4:c.8923A>G (DNAH8) NP_001362.2:p.Met2975Val
NR_038401.1:n.783-1741T>C (DNAH8-AS1)
ENST00000327475.10:c.9574A>G (DNAH8) ENSP00000333363.7:p.Met3192Val
ENST00000359357.7:c.8923A>G (DNAH8) ENSP00000352312.3:p.Met2975Val
ENST00000449981.6:c.9574A>G (DNAH8) ENSP00000415331.2:p.Met3192Val
XM_011514318.1:c.9511A>G (DNAH8) XP_011512620.1:p.Met3171Val
XM_011514318.2:c.9511A>G (DNAH8) XP_011512620.1:p.Met3171Val
XM_011514319.1:c.9466A>G (DNAH8) XP_011512621.1:p.Met3156Val
XM_011514319.2:c.9466A>G (DNAH8) XP_011512621.1:p.Met3156Val
XM_011514320.1:c.9337A>G (DNAH8) XP_011512622.1:p.Met3113Val
XM_011514320.2:c.9337A>G (DNAH8) XP_011512622.1:p.Met3113Val
XM_011514321.1:c.8923A>G (DNAH8) XP_011512623.1:p.Met2975Val
XM_017010325.1:c.9574A>G (DNAH8) XP_016865814.1:p.Met3192Val
XM_017010326.1:c.9574A>G (DNAH8) XP_016865815.1:p.Met3192Val
XR_926078.1:n.9691A>G (DNAH8)
XR_926078.2:n.9694A>G (DNAH8)