Canonical Allele Identifier: CA1327160927
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980366G= , CM000664.2:g.214980366G= GRCh38
NC_000002.11:g.215845090G= , CM000664.1:g.215845090G= GRCh37
NC_000002.10:g.215553335G= NCBI36
NG_007074.1:g.163062C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4740+117C= MANE Select ENSP00000272895.7:n.4740+117C=
ENST00000272895.11:c.4740+117C= ENSP00000272895.7:n.4740+117C=
ENST00000389661.4:c.3786+117C= ENSP00000374312.4:n.3786+117C=
NM_015657.3:c.3786+117C= NP_056472.2:n.3786+117C=
NM_173076.2:c.4740+117C= NP_775099.2:n.4740+117C=
NR_103740.1:n.5040+117C=
XM_011510951.1:c.4749+117C= XP_011509253.1:n.4749+117C=
XM_011510952.1:c.4749+117C= XP_011509254.1:n.4749+117C=
XM_011510951.2:c.4749+117C= XP_011509253.1:n.4749+117C=
NM_173076.3:c.4740+117C= MANE Select NP_775099.2:n.4740+117C=
NR_103740.2:n.5238+117C=
NM_015657.4:c.3786+117C= NP_056472.2:n.3786+117C=