Canonical Allele Identifier: CA359922126
Gene: MARVELD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69419543T>C , CM000667.2:g.69419543T>C GRCh38
NC_000005.9:g.68715370T>C , CM000667.1:g.68715370T>C GRCh37
NC_000005.8:g.68751126T>C NCBI36
NG_017201.1:g.9432T>C
NG_017201.2:g.9432T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.158T>C MANE Select ENSP00000323264.5:p.Leu53Ser
ENST00000413223.3:c.158T>C ENSP00000398922.2:p.Leu53Ser
ENST00000436532.7:c.158T>C ENSP00000414776.2:p.Leu53Ser
ENST00000645446.1:c.158T>C ENSP00000494616.1:p.Leu53Ser
ENST00000647531.1:c.158T>C ENSP00000493858.1:p.Leu53Ser
ENST00000325631.9:c.158T>C ENSP00000323264.5:p.Leu53Ser
ENST00000413223.2:c.158T>C ENSP00000398922.2:p.Leu53Ser
ENST00000436532.6:c.158T>C ENSP00000414776.2:p.Leu53Ser
ENST00000454295.6:c.158T>C ENSP00000396244.2:p.Leu53Ser
ENST00000512803.5:c.158T>C ENSP00000423490.1:p.Leu53Ser
ENST00000515844.1:c.158T>C ENSP00000421902.1:p.Leu53Ser
NM_001038603.2:c.158T>C NP_001033692.2:p.Leu53Ser
NM_001244734.1:c.158T>C NP_001231663.1:p.Leu53Ser
XM_005248445.3:c.158T>C XP_005248502.1:p.Leu53Ser
XM_005248446.3:c.158T>C XP_005248503.1:p.Leu53Ser
XM_005248447.3:c.158T>C XP_005248504.1:p.Leu53Ser
XM_005248445.4:c.158T>C XP_005248502.1:p.Leu53Ser
XM_005248446.4:c.158T>C XP_005248503.1:p.Leu53Ser
XM_005248447.4:c.158T>C XP_005248504.1:p.Leu53Ser
NM_001038603.3:c.158T>C MANE Select NP_001033692.2:p.Leu53Ser
NM_001244734.2:c.158T>C NP_001231663.1:p.Leu53Ser