Canonical Allele Identifier: CA359208376

Gene: DNAH5

Linked Data

• dbSNP Id: rs1744467559
• MyVariant Identifiers: chr5:g.13717611A>G (hg19) ; chr5:g.13717502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717502A>G , CM000667.2:g.13717502A>G	GRCh38
NC_000005.9:g.13717611A>G , CM000667.1:g.13717611A>G	GRCh37
NC_000005.8:g.13770611A>G	NCBI36
NG_013081.1:g.231979T>C
NG_013081.2:g.231979T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12518T>C MANE Select	ENSP00000265104.4:p.Leu4173Pro
ENST00000681290.1:c.12473T>C	ENSP00000505288.1:p.Leu4158Pro
ENST00000265104.4:c.12518T>C	ENSP00000265104.4:p.Leu4173Pro
NM_001369.2:c.12518T>C	NP_001360.1:p.Leu4173Pro
XM_005248262.2:c.12473T>C	XP_005248319.1:p.Leu4158Pro
XM_005248262.3:c.12626T>C	XP_005248319.2:p.Leu4209Pro
XM_017009177.1:c.12626T>C	XP_016864666.1:p.Leu4209Pro
XM_017009178.1:c.11531T>C	XP_016864667.1:p.Leu3844Pro
XM_017009179.2:c.11531T>C	XP_016864668.1:p.Leu3844Pro
XM_017009180.1:c.12626T>C	XP_016864669.1:p.Leu4209Pro
XM_017009185.1:c.7715T>C	XP_016864674.1:p.Leu2572Pro
XM_017009186.1:c.7268T>C	XP_016864675.1:p.Leu2423Pro
XM_017009188.1:c.6605T>C	XP_016864677.1:p.Leu2202Pro
XM_024454388.1:c.11531T>C	XP_024310156.1:p.Leu3844Pro
XM_024454389.1:c.11120T>C	XP_024310157.1:p.Leu3707Pro
NM_001369.3:c.12518T>C MANE Select	NP_001360.1:p.Leu4173Pro