Canonical Allele Identifier: CA359196828

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708298C>A (hg19) ; chr5:g.13708189C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708189C>A , CM000667.2:g.13708189C>A	GRCh38
NC_000005.9:g.13708298C>A , CM000667.1:g.13708298C>A	GRCh37
NC_000005.8:g.13761298C>A	NCBI36
NG_013081.1:g.241292G>T
NG_013081.2:g.241292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.605G>T
ENST00000265104.5:c.13272G>T MANE Select	ENSP00000265104.4:p.Met4424Ile
ENST00000681290.1:c.13227G>T	ENSP00000505288.1:p.Met4409Ile
ENST00000265104.4:c.13272G>T	ENSP00000265104.4:p.Met4424Ile
NM_001369.2:c.13272G>T	NP_001360.1:p.Met4424Ile
XM_005248262.2:c.13227G>T	XP_005248319.1:p.Met4409Ile
XM_005248262.3:c.13380G>T	XP_005248319.2:p.Met4460Ile
XM_017009177.1:c.12960G>T	XP_016864666.1:p.Met4320Ile
XM_017009178.1:c.12285G>T	XP_016864667.1:p.Met4095Ile
XM_017009179.2:c.12285G>T	XP_016864668.1:p.Met4095Ile
XM_017009185.1:c.8469G>T	XP_016864674.1:p.Met2823Ile
XM_017009186.1:c.8022G>T	XP_016864675.1:p.Met2674Ile
XM_017009188.1:c.7359G>T	XP_016864677.1:p.Met2453Ile
XM_024454388.1:c.12285G>T	XP_024310156.1:p.Met4095Ile
XM_024454389.1:c.11874G>T	XP_024310157.1:p.Met3958Ile
NM_001369.3:c.13272G>T MANE Select	NP_001360.1:p.Met4424Ile