Canonical Allele Identifier: CA350460827
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980528C>G , CM000664.2:g.214980528C>G GRCh38
NC_000002.11:g.215845252C>G , CM000664.1:g.215845252C>G GRCh37
NC_000002.10:g.215553497C>G NCBI36
NG_007074.1:g.162900G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4695G>C MANE Select ENSP00000272895.7:p.Lys1565Asn
ENST00000272895.11:c.4695G>C ENSP00000272895.7:p.Lys1565Asn
ENST00000389661.4:c.3741G>C ENSP00000374312.4:p.Lys1247Asn
NM_015657.3:c.3741G>C NP_056472.2:p.Lys1247Asn
NM_173076.2:c.4695G>C NP_775099.2:p.Lys1565Asn
NR_103740.1:n.4995G>C
XM_011510951.1:c.4704G>C XP_011509253.1:p.Lys1568Asn
XM_011510952.1:c.4704G>C XP_011509254.1:p.Lys1568Asn
XM_011510951.2:c.4704G>C XP_011509253.1:p.Lys1568Asn
NM_173076.3:c.4695G>C MANE Select NP_775099.2:p.Lys1565Asn
NR_103740.2:n.5193G>C
NM_015657.4:c.3741G>C NP_056472.2:p.Lys1247Asn