Canonical Allele Identifier: CA337082669

Gene: MAMLD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150467029A>G , CM000685.2:g.150467029A>G	GRCh38
NC_000023.10:g.149635295A>G , CM000685.1:g.149635295A>G	GRCh37
NC_000023.9:g.149385953A>G	NCBI36
NG_017093.2:g.108732A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262858.8:c.172-2716A>G	ENSP00000262858.6:n.172-2716A>G
ENST00000370401.7:c.172-2716A>G MANE Select	ENSP00000359428.2:n.172-2716A>G
ENST00000426613.5:c.97-2716A>G	ENSP00000397438.2:n.97-2716A>G
ENST00000682016.1:c.172-2716A>G	ENSP00000507991.1:n.172-2716A>G
ENST00000682253.1:c.172-2716A>G	ENSP00000506890.1:n.172-2716A>G
ENST00000683453.1:c.97-2716A>G	ENSP00000507454.1:n.97-2716A>G
ENST00000683696.1:c.58-2716A>G	ENSP00000507408.1:n.58-2716A>G
ENST00000432680.7:c.97-2716A>G	ENSP00000414517.2:n.97-2716A>G
ENST00000262858.7:c.172-2716A>G	ENSP00000262858.5:n.172-2716A>G
ENST00000358892.7:c.172-2716A>G	ENSP00000351765.3:n.172-2716A>G
ENST00000370401.6:c.172-2716A>G	ENSP00000359428.2:n.172-2716A>G
ENST00000426613.4:c.97-2716A>G	ENSP00000397438.2:n.97-2716A>G
ENST00000432680.6:c.97-2716A>G	ENSP00000414517.2:n.97-2716A>G
ENST00000468306.1:n.349-2716A>G
NM_001177465.2:c.97-2716A>G	NP_001170936.1:n.97-2716A>G
NM_001177466.2:c.97-2716A>G	NP_001170937.1:n.97-2716A>G
NM_005491.4:c.172-2716A>G	NP_005482.2:n.172-2716A>G
XM_006724802.2:c.172-2716A>G	XP_006724865.1:n.172-2716A>G
XM_006724803.2:c.97-2716A>G	XP_006724866.1:n.97-2716A>G
XM_011531092.1:c.172-2716A>G	XP_011529394.1:n.172-2716A>G
XM_011531093.1:c.172-2716A>G	XP_011529395.1:n.172-2716A>G
XM_011531094.1:c.97-2716A>G	XP_011529396.1:n.97-2716A>G
XM_011531095.1:c.172-2716A>G	XP_011529397.1:n.172-2716A>G
XM_011531096.1:c.97-2716A>G	XP_011529398.1:n.97-2716A>G
XM_006724802.4:c.172-2716A>G	XP_006724865.1:n.172-2716A>G
XM_006724803.4:c.97-2716A>G	XP_006724866.1:n.97-2716A>G
XM_011531092.3:c.172-2716A>G	XP_011529394.1:n.172-2716A>G
XM_011531093.3:c.172-2716A>G	XP_011529395.1:n.172-2716A>G
XM_011531095.3:c.172-2716A>G	XP_011529397.1:n.172-2716A>G
XM_017029188.1:c.97-2716A>G	XP_016884677.1:n.97-2716A>G
XM_017029189.2:c.97-2716A>G	XP_016884678.1:n.97-2716A>G
XM_024452317.1:c.172-2716A>G	XP_024308085.1:n.172-2716A>G
XM_024452318.1:c.172-2716A>G	XP_024308086.1:n.172-2716A>G
XM_024452319.1:c.172-2716A>G	XP_024308087.1:n.172-2716A>G
XM_024452320.1:c.97-2716A>G	XP_024308088.1:n.97-2716A>G
NM_001177465.3:c.97-2716A>G	NP_001170936.1:n.97-2716A>G
NM_005491.5:c.172-2716A>G MANE Select	NP_005482.2:n.172-2716A>G
NM_001177466.3:c.97-2716A>G	NP_001170937.1:n.97-2716A>G
NM_001400512.1:c.172-2716A>G	NP_001387441.1:n.172-2716A>G
NM_001400513.1:c.172-2716A>G	NP_001387442.1:n.172-2716A>G
NM_001400514.1:c.97-2716A>G	NP_001387443.1:n.97-2716A>G
NM_001400515.1:c.172-2716A>G	NP_001387444.1:n.172-2716A>G