Canonical Allele Identifier: CA359219309

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2451389
• ClinVar RCV Id: RCV003182405
• dbSNP Id: rs1580266122
• MyVariant Identifiers: chr5:g.13792223C>T (hg19) ; chr5:g.13792114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792114C>T , CM000667.2:g.13792114C>T	GRCh38
NC_000005.9:g.13792223C>T , CM000667.1:g.13792223C>T	GRCh37
NC_000005.8:g.13845223C>T	NCBI36
NG_013081.1:g.157367G>A
NG_013081.2:g.157367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8328G>A MANE Select	ENSP00000265104.4:p.Met2776Ile
ENST00000681290.1:c.8283G>A	ENSP00000505288.1:p.Met2761Ile
ENST00000265104.4:c.8328G>A	ENSP00000265104.4:p.Met2776Ile
NM_001369.2:c.8328G>A	NP_001360.1:p.Met2776Ile
XM_005248262.2:c.8283G>A	XP_005248319.1:p.Met2761Ile
XM_011513990.1:c.8328G>A	XP_011512292.1:p.Met2776Ile
XR_925598.1:n.8535G>A
XM_005248262.3:c.8436G>A	XP_005248319.2:p.Met2812Ile
XM_017009177.1:c.8436G>A	XP_016864666.1:p.Met2812Ile
XM_017009178.1:c.7341G>A	XP_016864667.1:p.Met2447Ile
XM_017009179.2:c.7341G>A	XP_016864668.1:p.Met2447Ile
XM_017009180.1:c.8436G>A	XP_016864669.1:p.Met2812Ile
XM_017009181.1:c.8436G>A	XP_016864670.1:p.Met2812Ile
XM_017009182.1:c.8436G>A	XP_016864671.1:p.Met2812Ile
XM_017009183.1:c.8436G>A	XP_016864672.1:p.Met2812Ile
XM_017009184.1:c.8436G>A	XP_016864673.1:p.Met2812Ile
XM_017009185.1:c.3525G>A	XP_016864674.1:p.Met1175Ile
XM_017009186.1:c.3078G>A	XP_016864675.1:p.Met1026Ile
XM_017009188.1:c.2415G>A	XP_016864677.1:p.Met805Ile
XM_024454388.1:c.7341G>A	XP_024310156.1:p.Met2447Ile
XM_024454389.1:c.6930G>A	XP_024310157.1:p.Met2310Ile
XR_001742034.1:n.8453G>A
XR_001742035.1:n.8453G>A
NM_001369.3:c.8328G>A MANE Select	NP_001360.1:p.Met2776Ile