Canonical Allele Identifier: CA2662977876

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214986407-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214986407C>T , CM000664.2:g.214986407C>T	GRCh38
NC_000002.11:g.215851131C>T , CM000664.1:g.215851131C>T	GRCh37
NC_000002.10:g.215559376C>T	NCBI36
NG_007074.1:g.157021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4163+135G>A MANE Select	ENSP00000272895.7:n.4163+135G>A
ENST00000272895.11:c.4163+135G>A	ENSP00000272895.7:n.4163+135G>A
ENST00000389661.4:c.3209+135G>A	ENSP00000374312.4:n.3209+135G>A
NM_015657.3:c.3209+135G>A	NP_056472.2:n.3209+135G>A
NM_173076.2:c.4163+135G>A	NP_775099.2:n.4163+135G>A
NR_103740.1:n.4463+135G>A
XM_011510951.1:c.4172+135G>A	XP_011509253.1:n.4172+135G>A
XM_011510952.1:c.4172+135G>A	XP_011509254.1:n.4172+135G>A
XM_011510951.2:c.4172+135G>A	XP_011509253.1:n.4172+135G>A
NM_173076.3:c.4163+135G>A MANE Select	NP_775099.2:n.4163+135G>A
NR_103740.2:n.4661+135G>A
NM_015657.4:c.3209+135G>A	NP_056472.2:n.3209+135G>A