Canonical Allele Identifier: CA19083598
Community Standard Title: NM_000478.6(ALPL):c.-104-5T>C
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21553973T>C , CM000663.2:g.21553973T>C GRCh38
NC_000001.10:g.21880466T>C , CM000663.1:g.21880466T>C GRCh37
NC_000001.9:g.21753053T>C NCBI36
NG_008940.1:g.49609T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.-104-5T>C MANE Select NP_000469.3:n.-104-5T>C
ENST00000374840.8:c.-104-5T>C MANE Select ENSP00000363973.3:n.-104-5T>C
NM_000478.4:c.-104-5T>C NP_000469.3:n.-104-5T>C
NM_000478.5:c.-104-5T>C NP_000469.3:n.-104-5T>C
NM_001127501.2:c.-104-6653T>C NP_001120973.2:n.-104-6653T>C
NM_001127501.3:c.-104-6653T>C NP_001120973.2:n.-104-6653T>C
NM_001127501.4:c.-104-6653T>C NP_001120973.2:n.-104-6653T>C
NM_001177520.1:c.-54-6653T>C NP_001170991.1:n.-54-6653T>C
NM_001177520.2:c.-54-6653T>C NP_001170991.1:n.-54-6653T>C
NM_001177520.3:c.-54-6653T>C NP_001170991.1:n.-54-6653T>C
NM_001369803.2:c.-104-5T>C NP_001356732.1:n.-104-5T>C
NM_001369804.2:c.-104-5T>C NP_001356733.1:n.-104-5T>C
NM_001369805.2:c.-104-5T>C NP_001356734.1:n.-104-5T>C
ENST00000374832.5:c.-104-5T>C ENSP00000363965.1:n.-104-5T>C
ENST00000374840.7:c.-104-5T>C ENSP00000363973.3:n.-104-5T>C
ENST00000468526.1:n.122-6653T>C
ENST00000539907.5:c.-54-6653T>C ENSP00000437674.1:n.-54-6653T>C
ENST00000540617.5:c.-104-6653T>C ENSP00000442672.1:n.-104-6653T>C
ENST00000696766.1:c.120-5T>C ENSP00000512858.1:n.120-5T>C
XM_005245818.1:c.-104-5T>C XP_005245875.1:n.-104-5T>C
XM_005245820.2:c.-104-5T>C XP_005245877.1:n.-104-5T>C
XM_006710546.1:c.-104-5T>C XP_006710609.1:n.-104-5T>C
XM_006710546.3:c.-104-5T>C XP_006710609.1:n.-104-5T>C