Canonical Allele Identifier: CA359205934

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717428T>G (hg19) ; chr5:g.13717319T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717319T>G , CM000667.2:g.13717319T>G	GRCh38
NC_000005.9:g.13717428T>G , CM000667.1:g.13717428T>G	GRCh37
NC_000005.8:g.13770428T>G	NCBI36
NG_013081.1:g.232162A>C
NG_013081.2:g.232162A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12701A>C MANE Select	ENSP00000265104.4:p.Lys4234Thr
ENST00000681290.1:c.12656A>C	ENSP00000505288.1:p.Lys4219Thr
ENST00000265104.4:c.12701A>C	ENSP00000265104.4:p.Lys4234Thr
NM_001369.2:c.12701A>C	NP_001360.1:p.Lys4234Thr
XM_005248262.2:c.12656A>C	XP_005248319.1:p.Lys4219Thr
XM_005248262.3:c.12809A>C	XP_005248319.2:p.Lys4270Thr
XM_017009177.1:c.12809A>C	XP_016864666.1:p.Lys4270Thr
XM_017009178.1:c.11714A>C	XP_016864667.1:p.Lys3905Thr
XM_017009179.2:c.11714A>C	XP_016864668.1:p.Lys3905Thr
XM_017009180.1:c.12809A>C	XP_016864669.1:p.Lys4270Thr
XM_017009185.1:c.7898A>C	XP_016864674.1:p.Lys2633Thr
XM_017009186.1:c.7451A>C	XP_016864675.1:p.Lys2484Thr
XM_017009188.1:c.6788A>C	XP_016864677.1:p.Lys2263Thr
XM_024454388.1:c.11714A>C	XP_024310156.1:p.Lys3905Thr
XM_024454389.1:c.11303A>C	XP_024310157.1:p.Lys3768Thr
NM_001369.3:c.12701A>C MANE Select	NP_001360.1:p.Lys4234Thr