Canonical Allele Identifier: CA359192364

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13701292-T-A
• MyVariant Identifiers: chr5:g.13701401T>A (hg19) ; chr5:g.13701292T>A (hg38)

Genomic Alleles

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

Transcript Alleles

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