Canonical Allele Identifier: CA359188607

Gene: DNAH5

Linked Data

• dbSNP Id: rs1347885101
• MyVariant Identifiers: chr5:g.13692156C>A (hg19) ; chr5:g.13692047C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692047C>A , CM000667.2:g.13692047C>A	GRCh38
NC_000005.9:g.13692156C>A , CM000667.1:g.13692156C>A	GRCh37
NC_000005.8:g.13745156C>A	NCBI36
NG_013081.1:g.257434G>T
NG_013081.2:g.257434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1145G>T
ENST00000265104.5:c.13812G>T MANE Select	ENSP00000265104.4:p.Arg4604Ser
ENST00000681290.1:c.13767G>T	ENSP00000505288.1:p.Arg4589Ser
ENST00000265104.4:c.13812G>T	ENSP00000265104.4:p.Arg4604Ser
NM_001369.2:c.13812G>T	NP_001360.1:p.Arg4604Ser
XM_005248262.2:c.13767G>T	XP_005248319.1:p.Arg4589Ser
XM_005248262.3:c.13920G>T	XP_005248319.2:p.Arg4640Ser
XM_017009177.1:c.13500G>T	XP_016864666.1:p.Arg4500Ser
XM_017009178.1:c.12825G>T	XP_016864667.1:p.Arg4275Ser
XM_017009179.2:c.12825G>T	XP_016864668.1:p.Arg4275Ser
XM_017009185.1:c.9009G>T	XP_016864674.1:p.Arg3003Ser
XM_017009186.1:c.8562G>T	XP_016864675.1:p.Arg2854Ser
XM_017009188.1:c.7899G>T	XP_016864677.1:p.Arg2633Ser
XM_024454388.1:c.12825G>T	XP_024310156.1:p.Arg4275Ser
XM_024454389.1:c.12414G>T	XP_024310157.1:p.Arg4138Ser
NM_001369.3:c.13812G>T MANE Select	NP_001360.1:p.Arg4604Ser