Canonical Allele Identifier: CA350447334
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019541G>C , CM000664.2:g.215019541G>C GRCh38
NC_000002.11:g.215884265G>C , CM000664.1:g.215884265G>C GRCh37
NC_000002.10:g.215592510G>C NCBI36
NG_007074.1:g.123887C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1543C>G MANE Select ENSP00000272895.7:p.Gln515Glu
ENST00000272895.11:c.1543C>G ENSP00000272895.7:p.Gln515Glu
ENST00000389661.4:c.589C>G ENSP00000374312.4:p.Gln197Glu
NM_015657.3:c.589C>G NP_056472.2:p.Gln197Glu
NM_173076.2:c.1543C>G NP_775099.2:p.Gln515Glu
NR_103740.1:n.1787C>G
XM_011510951.1:c.1543C>G XP_011509253.1:p.Gln515Glu
XM_011510952.1:c.1543C>G XP_011509254.1:p.Gln515Glu
XM_011510951.2:c.1543C>G XP_011509253.1:p.Gln515Glu
NM_173076.3:c.1543C>G MANE Select NP_775099.2:p.Gln515Glu
NR_103740.2:n.1985C>G
NM_015657.4:c.589C>G NP_056472.2:p.Gln197Glu