Canonical Allele Identifier: CA443254368

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13717324-A-G
• MyVariant Identifiers: chr5:g.13717433A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717324A>G , CM000667.2:g.13717324A>G	GRCh38
NC_000005.9:g.13717433A>G , CM000667.1:g.13717433A>G	GRCh37
NC_000005.8:g.13770433A>G	NCBI36
NG_013081.1:g.232157T>C
NG_013081.2:g.232157T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12696T>C MANE Select	ENSP00000265104.4:p.Asp4232=
ENST00000681290.1:c.12651T>C	ENSP00000505288.1:p.Asp4217=
ENST00000265104.4:c.12696T>C	ENSP00000265104.4:p.Asp4232=
NM_001369.2:c.12696T>C	NP_001360.1:p.Asp4232=
XM_005248262.2:c.12651T>C	XP_005248319.1:p.Asp4217=
XM_005248262.3:c.12804T>C	XP_005248319.2:p.Asp4268=
XM_017009177.1:c.12804T>C	XP_016864666.1:p.Asp4268=
XM_017009178.1:c.11709T>C	XP_016864667.1:p.Asp3903=
XM_017009179.2:c.11709T>C	XP_016864668.1:p.Asp3903=
XM_017009180.1:c.12804T>C	XP_016864669.1:p.Asp4268=
XM_017009185.1:c.7893T>C	XP_016864674.1:p.Asp2631=
XM_017009186.1:c.7446T>C	XP_016864675.1:p.Asp2482=
XM_017009188.1:c.6783T>C	XP_016864677.1:p.Asp2261=
XM_024454388.1:c.11709T>C	XP_024310156.1:p.Asp3903=
XM_024454389.1:c.11298T>C	XP_024310157.1:p.Asp3766=
NM_001369.3:c.12696T>C MANE Select	NP_001360.1:p.Asp4232=