Canonical Allele Identifier: CA431148659
Gene: ABCA12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215845240G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980516G>C , CM000664.2:g.214980516G>C GRCh38
NC_000002.11:g.215845240G>C , CM000664.1:g.215845240G>C GRCh37
NC_000002.10:g.215553485G>C NCBI36
NG_007074.1:g.162912C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4707C>G MANE Select ENSP00000272895.7:p.Gly1569=
ENST00000272895.11:c.4707C>G ENSP00000272895.7:p.Gly1569=
ENST00000389661.4:c.3753C>G ENSP00000374312.4:p.Gly1251=
NM_015657.3:c.3753C>G NP_056472.2:p.Gly1251=
NM_173076.2:c.4707C>G NP_775099.2:p.Gly1569=
NR_103740.1:n.5007C>G
XM_011510951.1:c.4716C>G XP_011509253.1:p.Gly1572=
XM_011510952.1:c.4716C>G XP_011509254.1:p.Gly1572=
XM_011510951.2:c.4716C>G XP_011509253.1:p.Gly1572=
NM_173076.3:c.4707C>G MANE Select NP_775099.2:p.Gly1569=
NR_103740.2:n.5205C>G
NM_015657.4:c.3753C>G NP_056472.2:p.Gly1251=