Canonical Allele Identifier: CA443248587

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13691990-G-A
• MyVariant Identifiers: chr5:g.13692099G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691990G>A , CM000667.2:g.13691990G>A	GRCh38
NC_000005.9:g.13692099G>A , CM000667.1:g.13692099G>A	GRCh37
NC_000005.8:g.13745099G>A	NCBI36
NG_013081.1:g.257491C>T
NG_013081.2:g.257491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1202C>T
ENST00000265104.5:c.13869C>T MANE Select	ENSP00000265104.4:p.Val4623=
ENST00000681290.1:c.13824C>T	ENSP00000505288.1:p.Val4608=
ENST00000265104.4:c.13869C>T	ENSP00000265104.4:p.Val4623=
NM_001369.2:c.13869C>T	NP_001360.1:p.Val4623=
XM_005248262.2:c.13824C>T	XP_005248319.1:p.Val4608=
XM_005248262.3:c.13977C>T	XP_005248319.2:p.Val4659=
XM_017009177.1:c.13557C>T	XP_016864666.1:p.Val4519=
XM_017009178.1:c.12882C>T	XP_016864667.1:p.Val4294=
XM_017009179.2:c.12882C>T	XP_016864668.1:p.Val4294=
XM_017009185.1:c.9066C>T	XP_016864674.1:p.Val3022=
XM_017009186.1:c.8619C>T	XP_016864675.1:p.Val2873=
XM_017009188.1:c.7956C>T	XP_016864677.1:p.Val2652=
XM_024454388.1:c.12882C>T	XP_024310156.1:p.Val4294=
XM_024454389.1:c.12471C>T	XP_024310157.1:p.Val4157=
NM_001369.3:c.13869C>T MANE Select	NP_001360.1:p.Val4623=