Canonical Allele Identifier: CA15140695

Gene: DNM3

Linked Data

• dbSNP Id: rs12075079
• gnomAD v2: 1-172219995-A-G
• gnomAD v3: 1-172250855-A-G
• gnomAD v4: 1-172250855-A-G
• MyVariant Identifiers: chr1:g.172219995A>G (hg19) ; chr1:g.172250855A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.172250855A>G , CM000663.2:g.172250855A>G	GRCh38
NC_000001.10:g.172219995A>G , CM000663.1:g.172219995A>G	GRCh37
NC_000001.9:g.170486618A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000485254.3:c.1690-2718A>G	ENSP00000429165.2:n.1690-2718A>G
ENST00000688173.1:c.1330-2718A>G	ENSP00000509172.1:n.1330-2718A>G
ENST00000627582.3:c.1660-2718A>G MANE Select	ENSP00000486701.1:n.1660-2718A>G
ENST00000355305.9:c.1690-2718A>G	ENSP00000347457.5:n.1690-2718A>G
ENST00000367731.5:c.1660-2718A>G	ENSP00000356705.1:n.1660-2718A>G
ENST00000520906.5:c.1660-2718A>G	ENSP00000429701.1:n.1660-2718A>G
ENST00000523513.1:c.1330-2718A>G	ENSP00000429416.1:n.1330-2718A>G
ENST00000627582.2:c.1660-2718A>G	ENSP00000486701.1:n.1660-2718A>G
NM_001136127.2:c.1660-2718A>G	NP_001129599.1:n.1660-2718A>G
NM_015569.4:c.1660-2718A>G	NP_056384.2:n.1660-2718A>G
XM_005245079.1:c.1690-2718A>G	XP_005245136.1:n.1690-2718A>G
XM_005245080.1:c.1690-2718A>G	XP_005245137.1:n.1690-2718A>G
XM_005245081.1:c.1690-2718A>G	XP_005245138.1:n.1690-2718A>G
XM_005245082.3:c.1360-2718A>G	XP_005245139.1:n.1360-2718A>G
XM_005245084.3:c.1690-2718A>G	XP_005245141.1:n.1690-2718A>G
XM_011509400.1:c.1690-2718A>G	XP_011507702.1:n.1690-2718A>G
XM_011509401.1:c.1690-2718A>G	XP_011507703.1:n.1690-2718A>G
NM_001350204.1:c.1690-2718A>G	NP_001337133.1:n.1690-2718A>G
NM_001350206.1:c.1690-2718A>G	NP_001337135.1:n.1690-2718A>G
NR_146559.1:n.1885-2718A>G
XM_017000976.1:c.1834-2718A>G	XP_016856465.1:n.1834-2718A>G
XM_017000977.1:c.1834-2718A>G	XP_016856466.1:n.1834-2718A>G
XM_017000978.1:c.1804-2718A>G	XP_016856467.1:n.1804-2718A>G
XM_017000979.1:c.1834-2718A>G	XP_016856468.1:n.1834-2718A>G
XM_017000980.1:c.1705-2718A>G	XP_016856469.1:n.1705-2718A>G
XM_017000982.2:c.1690-2718A>G	XP_016856471.1:n.1690-2718A>G
XM_017000983.1:c.1660-2718A>G	XP_016856472.1:n.1660-2718A>G
XM_017000984.1:c.1660-2718A>G	XP_016856473.1:n.1660-2718A>G
XM_017000985.1:c.1660-2718A>G	XP_016856474.1:n.1660-2718A>G
XM_017000986.1:c.1561-2718A>G	XP_016856475.1:n.1561-2718A>G
XM_017000987.1:c.1360-2718A>G	XP_016856476.1:n.1360-2718A>G
XM_017000991.1:c.*11-57873A>G	XP_016856480.1:n.*11-57873A>G
XR_001737107.1:n.1852-57873A>G
XR_001737108.1:n.1868-2718A>G
XR_001737110.1:n.1822-57873A>G
XR_001737111.1:n.1580-2718A>G
NM_015569.5:c.1660-2718A>G MANE Select	NP_056384.2:n.1660-2718A>G
NM_001136127.3:c.1660-2718A>G	NP_001129599.1:n.1660-2718A>G
NM_001350204.2:c.1690-2718A>G	NP_001337133.1:n.1690-2718A>G
NM_001350206.2:c.1690-2718A>G	NP_001337135.1:n.1690-2718A>G
NR_146559.2:n.1865-2718A>G