Canonical Allele Identifier: CA350460788
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980519A>T , CM000664.2:g.214980519A>T GRCh38
NC_000002.11:g.215845243A>T , CM000664.1:g.215845243A>T GRCh37
NC_000002.10:g.215553488A>T NCBI36
NG_007074.1:g.162909T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4704T>A MANE Select ENSP00000272895.7:p.Phe1568Leu
ENST00000272895.11:c.4704T>A ENSP00000272895.7:p.Phe1568Leu
ENST00000389661.4:c.3750T>A ENSP00000374312.4:p.Phe1250Leu
NM_015657.3:c.3750T>A NP_056472.2:p.Phe1250Leu
NM_173076.2:c.4704T>A NP_775099.2:p.Phe1568Leu
NR_103740.1:n.5004T>A
XM_011510951.1:c.4713T>A XP_011509253.1:p.Phe1571Leu
XM_011510952.1:c.4713T>A XP_011509254.1:p.Phe1571Leu
XM_011510951.2:c.4713T>A XP_011509253.1:p.Phe1571Leu
NM_173076.3:c.4704T>A MANE Select NP_775099.2:p.Phe1568Leu
NR_103740.2:n.5202T>A
NM_015657.4:c.3750T>A NP_056472.2:p.Phe1250Leu