Canonical Allele Identifier: CA359192362

Gene: DNAH5

Linked Data

• COSMIC: COSM4983604
• MyVariant Identifiers: chr5:g.13701400A>G (hg19) ; chr5:g.13701291A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.817T>C
ENST00000265104.5:c.13484T>C MANE Select	ENSP00000265104.4:p.Met4495Thr
ENST00000681290.1:c.13439T>C	ENSP00000505288.1:p.Met4480Thr
ENST00000265104.4:c.13484T>C	ENSP00000265104.4:p.Met4495Thr
NM_001369.2:c.13484T>C	NP_001360.1:p.Met4495Thr
XM_005248262.2:c.13439T>C	XP_005248319.1:p.Met4480Thr
XM_005248262.3:c.13592T>C	XP_005248319.2:p.Met4531Thr
XM_017009177.1:c.13172T>C	XP_016864666.1:p.Met4391Thr
XM_017009178.1:c.12497T>C	XP_016864667.1:p.Met4166Thr
XM_017009179.2:c.12497T>C	XP_016864668.1:p.Met4166Thr
XM_017009185.1:c.8681T>C	XP_016864674.1:p.Met2894Thr
XM_017009186.1:c.8234T>C	XP_016864675.1:p.Met2745Thr
XM_017009188.1:c.7571T>C	XP_016864677.1:p.Met2524Thr
XM_024454388.1:c.12497T>C	XP_024310156.1:p.Met4166Thr
XM_024454389.1:c.12086T>C	XP_024310157.1:p.Met4029Thr
NM_001369.3:c.13484T>C MANE Select	NP_001360.1:p.Met4495Thr