Canonical Allele Identifier: CA2662976176
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

gnomAD v4: 2-214953791-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214953791T>G , CM000664.2:g.214953791T>G GRCh38
NC_000002.11:g.215818515T>G , CM000664.1:g.215818515T>G GRCh37
NC_000002.10:g.215526760T>G NCBI36
NG_007074.1:g.189637A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.6647+63A>C (ABCA12) MANE Select ENSP00000272895.7:n.6647+63A>C
ENST00000272895.11:c.6647+63A>C (ABCA12) ENSP00000272895.7:n.6647+63A>C
ENST00000389661.4:c.5693+63A>C (ABCA12) ENSP00000374312.4:n.5693+63A>C
NM_015657.3:c.5693+63A>C (ABCA12) NP_056472.2:n.5693+63A>C
NM_173076.2:c.6647+63A>C (ABCA12) NP_775099.2:n.6647+63A>C
NR_103740.1:n.6947+63A>C (ABCA12)
NR_110292.1:n.444+5844T>G (SNHG31)
XM_011510951.1:c.6656+63A>C (ABCA12) XP_011509253.1:n.6656+63A>C
XM_011510951.2:c.6656+63A>C (ABCA12) XP_011509253.1:n.6656+63A>C
NM_173076.3:c.6647+63A>C (ABCA12) MANE Select NP_775099.2:n.6647+63A>C
NR_103740.2:n.7145+63A>C (ABCA12)
NM_015657.4:c.5693+63A>C (ABCA12) NP_056472.2:n.5693+63A>C
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