Canonical Allele Identifier: CA350461218
Gene: ABCA12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215845344G>C (hg19) chr2:g.214980620G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980620G>C , CM000664.2:g.214980620G>C GRCh38
NC_000002.11:g.215845344G>C , CM000664.1:g.215845344G>C GRCh37
NC_000002.10:g.215553589G>C NCBI36
NG_007074.1:g.162808C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4603C>G MANE Select ENSP00000272895.7:p.His1535Asp
ENST00000272895.11:c.4603C>G ENSP00000272895.7:p.His1535Asp
ENST00000389661.4:c.3649C>G ENSP00000374312.4:p.His1217Asp
NM_015657.3:c.3649C>G NP_056472.2:p.His1217Asp
NM_173076.2:c.4603C>G NP_775099.2:p.His1535Asp
NR_103740.1:n.4903C>G
XM_011510951.1:c.4612C>G XP_011509253.1:p.His1538Asp
XM_011510952.1:c.4612C>G XP_011509254.1:p.His1538Asp
XM_011510951.2:c.4612C>G XP_011509253.1:p.His1538Asp
NM_173076.3:c.4603C>G MANE Select NP_775099.2:p.His1535Asp
NR_103740.2:n.5101C>G
NM_015657.4:c.3649C>G NP_056472.2:p.His1217Asp
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