Canonical Allele Identifier: CA350483437
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011465G>A , CM000664.2:g.215011465G>A GRCh38
NC_000002.11:g.215876189G>A , CM000664.1:g.215876189G>A GRCh37
NC_000002.10:g.215584434G>A NCBI36
NG_007074.1:g.131963C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2306C>T MANE Select ENSP00000272895.7:p.Ser769Leu
ENST00000272895.11:c.2306C>T ENSP00000272895.7:p.Ser769Leu
ENST00000389661.4:c.1352C>T ENSP00000374312.4:p.Ser451Leu
NM_015657.3:c.1352C>T NP_056472.2:p.Ser451Leu
NM_173076.2:c.2306C>T NP_775099.2:p.Ser769Leu
NR_103740.1:n.2550C>T
XM_011510951.1:c.2306C>T XP_011509253.1:p.Ser769Leu
XM_011510952.1:c.2306C>T XP_011509254.1:p.Ser769Leu
XM_011510951.2:c.2306C>T XP_011509253.1:p.Ser769Leu
NM_173076.3:c.2306C>T MANE Select NP_775099.2:p.Ser769Leu
NR_103740.2:n.2748C>T
NM_015657.4:c.1352C>T NP_056472.2:p.Ser451Leu