Canonical Allele Identifier: CA1207316572

Gene: DNM3 PIGC

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.172377408G>C , CM000663.2:g.172377408G>C	GRCh38
NC_000001.10:g.172346548G>C , CM000663.1:g.172346548G>C	GRCh37
NC_000001.9:g.170613171G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485254.3:c.1912-1610G>C (DNM3)	ENSP00000429165.2:n.1912-1610G>C
ENST00000627582.3:c.1894-1610G>C (DNM3) MANE Select	ENSP00000486701.1:n.1894-1610G>C
ENST00000355305.9:c.1912-1610G>C (DNM3)	ENSP00000347457.5:n.1912-1610G>C
ENST00000367731.5:c.1882-1610G>C (DNM3)	ENSP00000356705.1:n.1882-1610G>C
ENST00000465374.1:n.165-772C>G (PIGC)
ENST00000489002.5:n.259+723C>G (PIGC)
ENST00000627582.2:c.1894-1610G>C (DNM3)	ENSP00000486701.1:n.1894-1610G>C
NM_001136127.2:c.1882-1610G>C (DNM3)	NP_001129599.1:n.1882-1610G>C
NM_015569.4:c.1894-1610G>C (DNM3)	NP_056384.2:n.1894-1610G>C
XM_005245079.1:c.1924-1610G>C (DNM3)	XP_005245136.1:n.1924-1610G>C
XM_005245080.1:c.1912-1610G>C (DNM3)	XP_005245137.1:n.1912-1610G>C
XM_005245081.1:c.1924-1610G>C (DNM3)	XP_005245138.1:n.1924-1610G>C
XM_005245082.3:c.1594-1610G>C (DNM3)	XP_005245139.1:n.1594-1610G>C
XM_011509400.1:c.1924-1610G>C (DNM3)	XP_011507702.1:n.1924-1610G>C
XM_011509401.1:c.1924-1610G>C (DNM3)	XP_011507703.1:n.1924-1610G>C
XR_426865.1:n.32-772C>G
NM_001350204.1:c.1912-1610G>C (DNM3)	NP_001337133.1:n.1912-1610G>C
NM_001350206.1:c.1912-1610G>C (DNM3)	NP_001337135.1:n.1912-1610G>C
NR_146559.1:n.2107-1610G>C (DNM3)
XM_017000976.1:c.2068-1610G>C (DNM3)	XP_016856465.1:n.2068-1610G>C
XM_017000977.1:c.2056-1610G>C (DNM3)	XP_016856466.1:n.2056-1610G>C
XM_017000978.1:c.2038-1610G>C (DNM3)	XP_016856467.1:n.2038-1610G>C
XM_017000979.1:c.2068-1610G>C (DNM3)	XP_016856468.1:n.2068-1610G>C
XM_017000980.1:c.1939-1610G>C (DNM3)	XP_016856469.1:n.1939-1610G>C
XM_017000982.2:c.1912-1610G>C (DNM3)	XP_016856471.1:n.1912-1610G>C
XM_017000983.1:c.1894-1610G>C (DNM3)	XP_016856472.1:n.1894-1610G>C
XM_017000984.1:c.1882-1610G>C (DNM3)	XP_016856473.1:n.1882-1610G>C
XM_017000985.1:c.1882-1610G>C (DNM3)	XP_016856474.1:n.1882-1610G>C
XM_017000986.1:c.1783-1610G>C (DNM3)	XP_016856475.1:n.1783-1610G>C
XM_017000987.1:c.1594-1610G>C (DNM3)	XP_016856476.1:n.1594-1610G>C
XR_001737107.1:n.1964-1610G>C (DNM3)
XR_001737108.1:n.2102-1610G>C (DNM3)
XR_001737110.1:n.1946-1610G>C (DNM3)
XR_001737111.1:n.1814-1610G>C (DNM3)
NM_015569.5:c.1894-1610G>C (DNM3) MANE Select	NP_056384.2:n.1894-1610G>C
NM_001136127.3:c.1882-1610G>C (DNM3)	NP_001129599.1:n.1882-1610G>C
NM_001350204.2:c.1912-1610G>C (DNM3)	NP_001337133.1:n.1912-1610G>C
NM_001350206.2:c.1912-1610G>C (DNM3)	NP_001337135.1:n.1912-1610G>C
NR_146559.2:n.2087-1610G>C (DNM3)