Canonical Allele Identifier: CA383823794
Gene: A2ML1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8839205T>C , CM000674.2:g.8839205T>C GRCh38
NC_000012.11:g.8991801T>C , CM000674.1:g.8991801T>C GRCh37
NC_000012.10:g.8883068T>C NCBI36
NG_042857.1:g.21734T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299698.12:c.1063T>C MANE Select ENSP00000299698.7:p.Phe355Leu
ENST00000299698.11:c.1063T>C ENSP00000299698.7:p.Phe355Leu
NM_144670.4:c.1063T>C NP_653271.2:p.Phe355Leu
NM_144670.5:c.1063T>C NP_653271.2:p.Phe355Leu
XM_011520566.1:c.1063T>C XP_011518868.1:p.Phe355Leu
XM_011520567.1:c.1063T>C XP_011518869.1:p.Phe355Leu
XR_931275.1:n.1161T>C
XM_011520566.2:c.1063T>C XP_011518868.1:p.Phe355Leu
XM_011520567.2:c.1063T>C XP_011518869.1:p.Phe355Leu
XM_017018868.1:c.1063T>C XP_016874357.1:p.Phe355Leu
XM_017018869.1:c.1063T>C XP_016874358.1:p.Phe355Leu
XM_017018870.1:c.1063T>C XP_016874359.1:p.Phe355Leu
XR_001748594.1:n.1161T>C
NM_144670.6:c.1063T>C MANE Select NP_653271.3:p.Phe355Leu