Canonical Allele Identifier: CA359192363

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701400A>C (hg19) ; chr5:g.13701291A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701291A>C , CM000667.2:g.13701291A>C	GRCh38
NC_000005.9:g.13701400A>C , CM000667.1:g.13701400A>C	GRCh37
NC_000005.8:g.13754400A>C	NCBI36
NG_013081.1:g.248190T>G
NG_013081.2:g.248190T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.817T>G
ENST00000265104.5:c.13484T>G MANE Select	ENSP00000265104.4:p.Met4495Arg
ENST00000681290.1:c.13439T>G	ENSP00000505288.1:p.Met4480Arg
ENST00000265104.4:c.13484T>G	ENSP00000265104.4:p.Met4495Arg
NM_001369.2:c.13484T>G	NP_001360.1:p.Met4495Arg
XM_005248262.2:c.13439T>G	XP_005248319.1:p.Met4480Arg
XM_005248262.3:c.13592T>G	XP_005248319.2:p.Met4531Arg
XM_017009177.1:c.13172T>G	XP_016864666.1:p.Met4391Arg
XM_017009178.1:c.12497T>G	XP_016864667.1:p.Met4166Arg
XM_017009179.2:c.12497T>G	XP_016864668.1:p.Met4166Arg
XM_017009185.1:c.8681T>G	XP_016864674.1:p.Met2894Arg
XM_017009186.1:c.8234T>G	XP_016864675.1:p.Met2745Arg
XM_017009188.1:c.7571T>G	XP_016864677.1:p.Met2524Arg
XM_024454388.1:c.12497T>G	XP_024310156.1:p.Met4166Arg
XM_024454389.1:c.12086T>G	XP_024310157.1:p.Met4029Arg
NM_001369.3:c.13484T>G MANE Select	NP_001360.1:p.Met4495Arg