Canonical Allele Identifier: CA3201354

Gene: DNAH5

Linked Data

• dbSNP Id: rs777929549
• ExAC: 5:13701412 A / G
• gnomAD v2: 5-13701412-A-G
• MyVariant Identifiers: chr5:g.13701412A>G (hg19) ; chr5:g.13701303A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701303A>G , CM000667.2:g.13701303A>G	GRCh38
NC_000005.9:g.13701412A>G , CM000667.1:g.13701412A>G	GRCh37
NC_000005.8:g.13754412A>G	NCBI36
NG_013081.1:g.248178T>C
NG_013081.2:g.248178T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.805T>C
ENST00000265104.5:c.13472T>C MANE Select	ENSP00000265104.4:p.Phe4491Ser
ENST00000681290.1:c.13427T>C	ENSP00000505288.1:p.Phe4476Ser
ENST00000265104.4:c.13472T>C	ENSP00000265104.4:p.Phe4491Ser
NM_001369.2:c.13472T>C	NP_001360.1:p.Phe4491Ser
XM_005248262.2:c.13427T>C	XP_005248319.1:p.Phe4476Ser
XM_005248262.3:c.13580T>C	XP_005248319.2:p.Phe4527Ser
XM_017009177.1:c.13160T>C	XP_016864666.1:p.Phe4387Ser
XM_017009178.1:c.12485T>C	XP_016864667.1:p.Phe4162Ser
XM_017009179.2:c.12485T>C	XP_016864668.1:p.Phe4162Ser
XM_017009185.1:c.8669T>C	XP_016864674.1:p.Phe2890Ser
XM_017009186.1:c.8222T>C	XP_016864675.1:p.Phe2741Ser
XM_017009188.1:c.7559T>C	XP_016864677.1:p.Phe2520Ser
XM_024454388.1:c.12485T>C	XP_024310156.1:p.Phe4162Ser
XM_024454389.1:c.12074T>C	XP_024310157.1:p.Phe4025Ser
NM_001369.3:c.13472T>C MANE Select	NP_001360.1:p.Phe4491Ser