Canonical Allele Identifier: CA443248653

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692035-G-C
• MyVariant Identifiers: chr5:g.13692144G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692035G>C , CM000667.2:g.13692035G>C	GRCh38
NC_000005.9:g.13692144G>C , CM000667.1:g.13692144G>C	GRCh37
NC_000005.8:g.13745144G>C	NCBI36
NG_013081.1:g.257446C>G
NG_013081.2:g.257446C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1157C>G
ENST00000265104.5:c.13824C>G MANE Select	ENSP00000265104.4:p.Thr4608=
ENST00000681290.1:c.13779C>G	ENSP00000505288.1:p.Thr4593=
ENST00000265104.4:c.13824C>G	ENSP00000265104.4:p.Thr4608=
NM_001369.2:c.13824C>G	NP_001360.1:p.Thr4608=
XM_005248262.2:c.13779C>G	XP_005248319.1:p.Thr4593=
XM_005248262.3:c.13932C>G	XP_005248319.2:p.Thr4644=
XM_017009177.1:c.13512C>G	XP_016864666.1:p.Thr4504=
XM_017009178.1:c.12837C>G	XP_016864667.1:p.Thr4279=
XM_017009179.2:c.12837C>G	XP_016864668.1:p.Thr4279=
XM_017009185.1:c.9021C>G	XP_016864674.1:p.Thr3007=
XM_017009186.1:c.8574C>G	XP_016864675.1:p.Thr2858=
XM_017009188.1:c.7911C>G	XP_016864677.1:p.Thr2637=
XM_024454388.1:c.12837C>G	XP_024310156.1:p.Thr4279=
XM_024454389.1:c.12426C>G	XP_024310157.1:p.Thr4142=
NM_001369.3:c.13824C>G MANE Select	NP_001360.1:p.Thr4608=