Canonical Allele Identifier: CA359196855

Gene: DNAH5

Linked Data

• dbSNP Id: rs1374559535
• gnomAD v2: 5-13708300-T-C
• gnomAD v4: 5-13708191-T-C
• MyVariant Identifiers: chr5:g.13708300T>C (hg19) ; chr5:g.13708191T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708191T>C , CM000667.2:g.13708191T>C	GRCh38
NC_000005.9:g.13708300T>C , CM000667.1:g.13708300T>C	GRCh37
NC_000005.8:g.13761300T>C	NCBI36
NG_013081.1:g.241290A>G
NG_013081.2:g.241290A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.603A>G
ENST00000265104.5:c.13270A>G MANE Select	ENSP00000265104.4:p.Met4424Val
ENST00000681290.1:c.13225A>G	ENSP00000505288.1:p.Met4409Val
ENST00000265104.4:c.13270A>G	ENSP00000265104.4:p.Met4424Val
NM_001369.2:c.13270A>G	NP_001360.1:p.Met4424Val
XM_005248262.2:c.13225A>G	XP_005248319.1:p.Met4409Val
XM_005248262.3:c.13378A>G	XP_005248319.2:p.Met4460Val
XM_017009177.1:c.12958A>G	XP_016864666.1:p.Met4320Val
XM_017009178.1:c.12283A>G	XP_016864667.1:p.Met4095Val
XM_017009179.2:c.12283A>G	XP_016864668.1:p.Met4095Val
XM_017009185.1:c.8467A>G	XP_016864674.1:p.Met2823Val
XM_017009186.1:c.8020A>G	XP_016864675.1:p.Met2674Val
XM_017009188.1:c.7357A>G	XP_016864677.1:p.Met2453Val
XM_024454388.1:c.12283A>G	XP_024310156.1:p.Met4095Val
XM_024454389.1:c.11872A>G	XP_024310157.1:p.Met3958Val
NM_001369.3:c.13270A>G MANE Select	NP_001360.1:p.Met4424Val