Canonical Allele Identifier: CA64803958
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs769092601

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019792G>T , CM000664.2:g.215019792G>T GRCh38
NC_000002.11:g.215884516G>T , CM000664.1:g.215884516G>T GRCh37
NC_000002.10:g.215592761G>T NCBI36
NG_007074.1:g.123636C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1292C>A MANE Select ENSP00000272895.7:p.Ser431Tyr
ENST00000272895.11:c.1292C>A ENSP00000272895.7:p.Ser431Tyr
ENST00000389661.4:c.338C>A ENSP00000374312.4:p.Ser113Tyr
NM_015657.3:c.338C>A NP_056472.2:p.Ser113Tyr
NM_173076.2:c.1292C>A NP_775099.2:p.Ser431Tyr
NR_103740.1:n.1536C>A
XM_011510951.1:c.1292C>A XP_011509253.1:p.Ser431Tyr
XM_011510952.1:c.1292C>A XP_011509254.1:p.Ser431Tyr
XM_011510951.2:c.1292C>A XP_011509253.1:p.Ser431Tyr
NM_173076.3:c.1292C>A MANE Select NP_775099.2:p.Ser431Tyr
NR_103740.2:n.1734C>A
NM_015657.4:c.338C>A NP_056472.2:p.Ser113Tyr