Canonical Allele Identifier: CA350460886
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980542G>A , CM000664.2:g.214980542G>A GRCh38
NC_000002.11:g.215845266G>A , CM000664.1:g.215845266G>A GRCh37
NC_000002.10:g.215553511G>A NCBI36
NG_007074.1:g.162886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4681C>T MANE Select ENSP00000272895.7:p.Pro1561Ser
ENST00000272895.11:c.4681C>T ENSP00000272895.7:p.Pro1561Ser
ENST00000389661.4:c.3727C>T ENSP00000374312.4:p.Pro1243Ser
NM_015657.3:c.3727C>T NP_056472.2:p.Pro1243Ser
NM_173076.2:c.4681C>T NP_775099.2:p.Pro1561Ser
NR_103740.1:n.4981C>T
XM_011510951.1:c.4690C>T XP_011509253.1:p.Pro1564Ser
XM_011510952.1:c.4690C>T XP_011509254.1:p.Pro1564Ser
XM_011510951.2:c.4690C>T XP_011509253.1:p.Pro1564Ser
NM_173076.3:c.4681C>T MANE Select NP_775099.2:p.Pro1561Ser
NR_103740.2:n.5179C>T
NM_015657.4:c.3727C>T NP_056472.2:p.Pro1243Ser