Canonical Allele Identifier: CA359188488

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692098T>G (hg19) ; chr5:g.13691989T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691989T>G , CM000667.2:g.13691989T>G	GRCh38
NC_000005.9:g.13692098T>G , CM000667.1:g.13692098T>G	GRCh37
NC_000005.8:g.13745098T>G	NCBI36
NG_013081.1:g.257492A>C
NG_013081.2:g.257492A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1203A>C
ENST00000265104.5:c.13870A>C MANE Select	ENSP00000265104.4:p.Lys4624Gln
ENST00000681290.1:c.13825A>C	ENSP00000505288.1:p.Lys4609Gln
ENST00000265104.4:c.13870A>C	ENSP00000265104.4:p.Lys4624Gln
NM_001369.2:c.13870A>C	NP_001360.1:p.Lys4624Gln
XM_005248262.2:c.13825A>C	XP_005248319.1:p.Lys4609Gln
XM_005248262.3:c.13978A>C	XP_005248319.2:p.Lys4660Gln
XM_017009177.1:c.13558A>C	XP_016864666.1:p.Lys4520Gln
XM_017009178.1:c.12883A>C	XP_016864667.1:p.Lys4295Gln
XM_017009179.2:c.12883A>C	XP_016864668.1:p.Lys4295Gln
XM_017009185.1:c.9067A>C	XP_016864674.1:p.Lys3023Gln
XM_017009186.1:c.8620A>C	XP_016864675.1:p.Lys2874Gln
XM_017009188.1:c.7957A>C	XP_016864677.1:p.Lys2653Gln
XM_024454388.1:c.12883A>C	XP_024310156.1:p.Lys4295Gln
XM_024454389.1:c.12472A>C	XP_024310157.1:p.Lys4158Gln
NM_001369.3:c.13870A>C MANE Select	NP_001360.1:p.Lys4624Gln