Canonical Allele Identifier: CA359192365

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701401T>G (hg19) ; chr5:g.13701292T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701292T>G , CM000667.2:g.13701292T>G	GRCh38
NC_000005.9:g.13701401T>G , CM000667.1:g.13701401T>G	GRCh37
NC_000005.8:g.13754401T>G	NCBI36
NG_013081.1:g.248189A>C
NG_013081.2:g.248189A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.816A>C
ENST00000265104.5:c.13483A>C MANE Select	ENSP00000265104.4:p.Met4495Leu
ENST00000681290.1:c.13438A>C	ENSP00000505288.1:p.Met4480Leu
ENST00000265104.4:c.13483A>C	ENSP00000265104.4:p.Met4495Leu
NM_001369.2:c.13483A>C	NP_001360.1:p.Met4495Leu
XM_005248262.2:c.13438A>C	XP_005248319.1:p.Met4480Leu
XM_005248262.3:c.13591A>C	XP_005248319.2:p.Met4531Leu
XM_017009177.1:c.13171A>C	XP_016864666.1:p.Met4391Leu
XM_017009178.1:c.12496A>C	XP_016864667.1:p.Met4166Leu
XM_017009179.2:c.12496A>C	XP_016864668.1:p.Met4166Leu
XM_017009185.1:c.8680A>C	XP_016864674.1:p.Met2894Leu
XM_017009186.1:c.8233A>C	XP_016864675.1:p.Met2745Leu
XM_017009188.1:c.7570A>C	XP_016864677.1:p.Met2524Leu
XM_024454388.1:c.12496A>C	XP_024310156.1:p.Met4166Leu
XM_024454389.1:c.12085A>C	XP_024310157.1:p.Met4029Leu
NM_001369.3:c.13483A>C MANE Select	NP_001360.1:p.Met4495Leu