Canonical Allele Identifier: CA19088185
Community Standard Title: NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21560740G>A , CM000663.2:g.21560740G>A GRCh38
NC_000001.10:g.21887233G>A , CM000663.1:g.21887233G>A GRCh37
NC_000001.9:g.21759820G>A NCBI36
NG_008940.1:g.56376G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.176G>A MANE Select NP_000469.3:p.Gly59Glu
ENST00000374840.8:c.176G>A MANE Select ENSP00000363973.3:p.Gly59Glu
NM_000478.4:c.176G>A NP_000469.3:p.Gly59Glu
NM_000478.5:c.176G>A NP_000469.3:p.Gly59Glu
NM_001127501.2:c.11G>A NP_001120973.2:p.Gly4Glu
NM_001127501.3:c.11G>A NP_001120973.2:p.Gly4Glu
NM_001127501.4:c.11G>A NP_001120973.2:p.Gly4Glu
NM_001177520.1:c.61G>A NP_001170991.1:p.Glu21Lys
NM_001177520.2:c.61G>A NP_001170991.1:p.Glu21Lys
NM_001177520.3:c.61G>A NP_001170991.1:p.Glu21Lys
NM_001369803.2:c.176G>A NP_001356732.1:p.Gly59Glu
NM_001369804.2:c.176G>A NP_001356733.1:p.Gly59Glu
NM_001369805.2:c.176G>A NP_001356734.1:p.Gly59Glu
ENST00000374832.5:c.176G>A ENSP00000363965.1:p.Gly59Glu
ENST00000374840.7:c.176G>A ENSP00000363973.3:p.Gly59Glu
ENST00000468526.1:n.236G>A
ENST00000539907.5:c.61G>A ENSP00000437674.1:p.Glu21Lys
ENST00000540617.5:c.11G>A ENSP00000442672.1:p.Gly4Glu
XM_005245818.1:c.176G>A XP_005245875.1:p.Gly59Glu
XM_005245820.2:c.176G>A XP_005245877.1:p.Gly59Glu
XM_006710546.1:c.176G>A XP_006710609.1:p.Gly59Glu
XM_006710546.3:c.176G>A XP_006710609.1:p.Gly59Glu
XM_017000903.1:c.61G>A XP_016856392.1:p.Glu21Lys