Canonical Allele Identifier: CA359197017

Gene: DNAH5

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13824197A>G , CM000667.2:g.13824197A>G	GRCh38
NC_000005.9:g.13824306A>G , CM000667.1:g.13824306A>G	GRCh37
NC_000005.8:g.13877306A>G	NCBI36
NG_013081.1:g.125284T>C
NG_013081.2:g.125284T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1510+2T>C
ENST00000265104.5:c.6579+2T>C MANE Select	ENSP00000265104.4:n.6579+2T>C
ENST00000681290.1:c.6534+2T>C	ENSP00000505288.1:n.6534+2T>C
ENST00000265104.4:c.6579+2T>C	ENSP00000265104.4:n.6579+2T>C
NM_001369.2:c.6579+2T>C	NP_001360.1:n.6579+2T>C
XM_005248262.2:c.6534+2T>C	XP_005248319.1:n.6534+2T>C
XM_011513990.1:c.6579+2T>C	XP_011512292.1:n.6579+2T>C
XR_925598.1:n.6786+2T>C
XM_005248262.3:c.6687+2T>C	XP_005248319.2:n.6687+2T>C
XM_017009177.1:c.6687+2T>C	XP_016864666.1:n.6687+2T>C
XM_017009178.1:c.5592+2T>C	XP_016864667.1:n.5592+2T>C
XM_017009179.2:c.5592+2T>C	XP_016864668.1:n.5592+2T>C
XM_017009180.1:c.6687+2T>C	XP_016864669.1:n.6687+2T>C
XM_017009181.1:c.6687+2T>C	XP_016864670.1:n.6687+2T>C
XM_017009182.1:c.6687+2T>C	XP_016864671.1:n.6687+2T>C
XM_017009183.1:c.6687+2T>C	XP_016864672.1:n.6687+2T>C
XM_017009184.1:c.6687+2T>C	XP_016864673.1:n.6687+2T>C
XM_017009185.1:c.1776+2T>C	XP_016864674.1:n.1776+2T>C
XM_017009186.1:c.1329+2T>C	XP_016864675.1:n.1329+2T>C
XM_017009187.1:c.6687+2T>C	XP_016864676.1:n.6687+2T>C
XM_017009188.1:c.666+2T>C	XP_016864677.1:n.666+2T>C
XM_024454388.1:c.5592+2T>C	XP_024310156.1:n.5592+2T>C
XM_024454389.1:c.5181+2T>C	XP_024310157.1:n.5181+2T>C
XR_001742034.1:n.6704+2T>C
XR_001742035.1:n.6704+2T>C
NM_001369.3:c.6579+2T>C MANE Select	NP_001360.1:n.6579+2T>C