Canonical Allele Identifier: CA350460746
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.214980509A>G
GRCh37 chr2:g.215845233A>G
Revel Score:
ENST00000272895 (MANE Select) 0.846
ENST00000389661 0.846
gnomAD v4:
chr2-214980509-A-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980509A>G , CM000664.2:g.214980509A>G GRCh38
NC_000002.11:g.215845233A>G , CM000664.1:g.215845233A>G GRCh37
NC_000002.10:g.215553478A>G NCBI36
NG_007074.1:g.162919T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4714T>C MANE Select ENSP00000272895.7:p.Tyr1572His
ENST00000272895.11:c.4714T>C ENSP00000272895.7:p.Tyr1572His
ENST00000389661.4:c.3760T>C ENSP00000374312.4:p.Tyr1254His
NM_015657.3:c.3760T>C NP_056472.2:p.Tyr1254His
NM_173076.2:c.4714T>C NP_775099.2:p.Tyr1572His
NR_103740.1:n.5014T>C
XM_011510951.1:c.4723T>C XP_011509253.1:p.Tyr1575His
XM_011510952.1:c.4723T>C XP_011509254.1:p.Tyr1575His
XM_011510951.2:c.4723T>C XP_011509253.1:p.Tyr1575His
NM_173076.3:c.4714T>C MANE Select NP_775099.2:p.Tyr1572His
NR_103740.2:n.5212T>C
NM_015657.4:c.3760T>C NP_056472.2:p.Tyr1254His
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