Canonical Allele Identifier: CA64839252
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs111824523
MyVariant Identifiers: chr2:g.215928751T>C (hg19) chr2:g.215064028T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064028T>C , CM000664.2:g.215064028T>C GRCh38
NC_000002.11:g.215928751T>C , CM000664.1:g.215928751T>C GRCh37
NC_000002.10:g.215636996T>C NCBI36
NG_007074.1:g.79401A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.317+38A>G MANE Select ENSP00000272895.7:n.317+38A>G
ENST00000272895.11:c.317+38A>G ENSP00000272895.7:n.317+38A>G
NM_173076.2:c.317+38A>G NP_775099.2:n.317+38A>G
NR_103740.1:n.537+38A>G
XM_011510951.1:c.317+38A>G XP_011509253.1:n.317+38A>G
XM_011510952.1:c.317+38A>G XP_011509254.1:n.317+38A>G
XM_011510951.2:c.317+38A>G XP_011509253.1:n.317+38A>G
NM_173076.3:c.317+38A>G MANE Select NP_775099.2:n.317+38A>G
NR_103740.2:n.735+38A>G
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