Canonical Allele Identifier: CA364003431

Gene: DNAH8

Linked Data

• gnomAD v4: 6-38842681-A-C
• MyVariant Identifiers: chr6:g.38810457A>C (hg19) ; chr6:g.38842681A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38842681A>C , CM000668.2:g.38842681A>C	GRCh38
NC_000006.11:g.38810457A>C , CM000668.1:g.38810457A>C	GRCh37
NC_000006.10:g.38918435A>C	NCBI36
NG_041805.1:g.132341A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327475.11:c.4623A>C MANE Select	ENSP00000333363.7:p.Lys1541Asn
ENST00000327475.10:c.4623A>C	ENSP00000333363.7:p.Lys1541Asn
ENST00000359357.7:c.3972A>C	ENSP00000352312.3:p.Lys1324Asn
ENST00000449981.6:c.4623A>C	ENSP00000415331.2:p.Lys1541Asn
NM_001206927.1:c.4623A>C	NP_001193856.1:p.Lys1541Asn
XM_011514318.1:c.4560A>C	XP_011512620.1:p.Lys1520Asn
XM_011514319.1:c.4623A>C	XP_011512621.1:p.Lys1541Asn
XM_011514320.1:c.4386A>C	XP_011512622.1:p.Lys1462Asn
XM_011514321.1:c.3972A>C	XP_011512623.1:p.Lys1324Asn
XM_011514322.1:c.4623A>C	XP_011512624.1:p.Lys1541Asn
XR_926078.1:n.4740A>C
NM_001371.3:c.3972A>C	NP_001362.2:p.Lys1324Asn
XM_011514318.2:c.4560A>C	XP_011512620.1:p.Lys1520Asn
XM_011514319.2:c.4623A>C	XP_011512621.1:p.Lys1541Asn
XM_011514320.2:c.4386A>C	XP_011512622.1:p.Lys1462Asn
XM_017010325.1:c.4623A>C	XP_016865814.1:p.Lys1541Asn
XM_017010326.1:c.4623A>C	XP_016865815.1:p.Lys1541Asn
XM_017010327.1:c.4623A>C	XP_016865816.1:p.Lys1541Asn
XR_001743188.1:n.4744A>C
XR_926078.2:n.4743A>C
NM_001206927.2:c.4623A>C MANE Select	NP_001193856.1:p.Lys1541Asn
NM_001371.4:c.3972A>C	NP_001362.2:p.Lys1324Asn