Canonical Allele Identifier: CA416533974
Community Standard Title: NM_000478.6(ALPL):c.99G>T (p.Ala33=)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21560663G>T , CM000663.2:g.21560663G>T GRCh38
NC_000001.10:g.21887156G>T , CM000663.1:g.21887156G>T GRCh37
NC_000001.9:g.21759743G>T NCBI36
NG_008940.1:g.56299G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.99G>T MANE Select NP_000469.3:p.Ala33=
ENST00000374840.8:c.99G>T MANE Select ENSP00000363973.3:p.Ala33=
NM_000478.4:c.99G>T NP_000469.3:p.Ala33=
NM_000478.5:c.99G>T NP_000469.3:p.Ala33=
NM_001127501.2:c.-67G>T NP_001120973.2:n.-67G>T
NM_001127501.3:c.-67G>T NP_001120973.2:n.-67G>T
NM_001127501.4:c.-67G>T NP_001120973.2:n.-67G>T
NM_001177520.1:c.-17G>T NP_001170991.1:n.-17G>T
NM_001177520.2:c.-17G>T NP_001170991.1:n.-17G>T
NM_001177520.3:c.-17G>T NP_001170991.1:n.-17G>T
NM_001369803.2:c.99G>T NP_001356732.1:p.Ala33=
NM_001369804.2:c.99G>T NP_001356733.1:p.Ala33=
NM_001369805.2:c.99G>T NP_001356734.1:p.Ala33=
ENST00000374832.5:c.99G>T ENSP00000363965.1:p.Ala33=
ENST00000374840.7:c.99G>T ENSP00000363973.3:p.Ala33=
ENST00000468526.1:n.159G>T
ENST00000539907.5:c.-17G>T ENSP00000437674.1:n.-17G>T
ENST00000540617.5:c.-67G>T ENSP00000442672.1:n.-67G>T
XM_005245818.1:c.99G>T XP_005245875.1:p.Ala33=
XM_005245820.2:c.99G>T XP_005245877.1:p.Ala33=
XM_006710546.1:c.99G>T XP_006710609.1:p.Ala33=
XM_006710546.3:c.99G>T XP_006710609.1:p.Ala33=