Canonical Allele Identifier: CA113948930

Gene: DNAH5

Linked Data

• dbSNP Id: rs370411490
• gnomAD v3: 5-13780889-C-G
• gnomAD v4: 5-13780889-C-G
• MyVariant Identifiers: chr5:g.13780998C>G (hg19) ; chr5:g.13780889C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780889C>G , CM000667.2:g.13780889C>G	GRCh38
NC_000005.9:g.13780998C>G , CM000667.1:g.13780998C>G	GRCh37
NC_000005.8:g.13833998C>G	NCBI36
NG_013081.1:g.168592G>C
NG_013081.2:g.168592G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8891G>C MANE Select	ENSP00000265104.4:p.Ser2964Thr
ENST00000681290.1:c.8846G>C	ENSP00000505288.1:p.Ser2949Thr
ENST00000265104.4:c.8891G>C	ENSP00000265104.4:p.Ser2964Thr
NM_001369.2:c.8891G>C	NP_001360.1:p.Ser2964Thr
XM_005248262.2:c.8846G>C	XP_005248319.1:p.Ser2949Thr
XM_011513990.1:c.8891G>C	XP_011512292.1:p.Ser2964Thr
XR_925598.1:n.9028-3534G>C
XM_005248262.3:c.8999G>C	XP_005248319.2:p.Ser3000Thr
XM_017009177.1:c.8999G>C	XP_016864666.1:p.Ser3000Thr
XM_017009178.1:c.7904G>C	XP_016864667.1:p.Ser2635Thr
XM_017009179.2:c.7904G>C	XP_016864668.1:p.Ser2635Thr
XM_017009180.1:c.8999G>C	XP_016864669.1:p.Ser3000Thr
XM_017009181.1:c.8999G>C	XP_016864670.1:p.Ser3000Thr
XM_017009182.1:c.8999G>C	XP_016864671.1:p.Ser3000Thr
XM_017009183.1:c.8999G>C	XP_016864672.1:p.Ser3000Thr
XM_017009184.1:c.8999G>C	XP_016864673.1:p.Ser3000Thr
XM_017009185.1:c.4088G>C	XP_016864674.1:p.Ser1363Thr
XM_017009186.1:c.3641G>C	XP_016864675.1:p.Ser1214Thr
XM_017009188.1:c.2978G>C	XP_016864677.1:p.Ser993Thr
XM_024454388.1:c.7904G>C	XP_024310156.1:p.Ser2635Thr
XM_024454389.1:c.7493G>C	XP_024310157.1:p.Ser2498Thr
XR_001742034.1:n.8946-3534G>C
XR_001742035.1:n.8946-3534G>C
NM_001369.3:c.8891G>C MANE Select	NP_001360.1:p.Ser2964Thr