Canonical Allele Identifier: CA359192368

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701404C>A (hg19) ; chr5:g.13701295C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701295C>A , CM000667.2:g.13701295C>A	GRCh38
NC_000005.9:g.13701404C>A , CM000667.1:g.13701404C>A	GRCh37
NC_000005.8:g.13754404C>A	NCBI36
NG_013081.1:g.248186G>T
NG_013081.2:g.248186G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.813G>T
ENST00000265104.5:c.13480G>T MANE Select	ENSP00000265104.4:p.Ala4494Ser
ENST00000681290.1:c.13435G>T	ENSP00000505288.1:p.Ala4479Ser
ENST00000265104.4:c.13480G>T	ENSP00000265104.4:p.Ala4494Ser
NM_001369.2:c.13480G>T	NP_001360.1:p.Ala4494Ser
XM_005248262.2:c.13435G>T	XP_005248319.1:p.Ala4479Ser
XM_005248262.3:c.13588G>T	XP_005248319.2:p.Ala4530Ser
XM_017009177.1:c.13168G>T	XP_016864666.1:p.Ala4390Ser
XM_017009178.1:c.12493G>T	XP_016864667.1:p.Ala4165Ser
XM_017009179.2:c.12493G>T	XP_016864668.1:p.Ala4165Ser
XM_017009185.1:c.8677G>T	XP_016864674.1:p.Ala2893Ser
XM_017009186.1:c.8230G>T	XP_016864675.1:p.Ala2744Ser
XM_017009188.1:c.7567G>T	XP_016864677.1:p.Ala2523Ser
XM_024454388.1:c.12493G>T	XP_024310156.1:p.Ala4165Ser
XM_024454389.1:c.12082G>T	XP_024310157.1:p.Ala4028Ser
NM_001369.3:c.13480G>T MANE Select	NP_001360.1:p.Ala4494Ser