Canonical Allele Identifier: CA2662982045

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215019508-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019508T>A , CM000664.2:g.215019508T>A	GRCh38
NC_000002.11:g.215884232T>A , CM000664.1:g.215884232T>A	GRCh37
NC_000002.10:g.215592477T>A	NCBI36
NG_007074.1:g.123920A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1544+32A>T MANE Select	ENSP00000272895.7:n.1544+32A>T
ENST00000272895.11:c.1544+32A>T	ENSP00000272895.7:n.1544+32A>T
ENST00000389661.4:c.590+32A>T	ENSP00000374312.4:n.590+32A>T
NM_015657.3:c.590+32A>T	NP_056472.2:n.590+32A>T
NM_173076.2:c.1544+32A>T	NP_775099.2:n.1544+32A>T
NR_103740.1:n.1788+32A>T
XM_011510951.1:c.1544+32A>T	XP_011509253.1:n.1544+32A>T
XM_011510952.1:c.1544+32A>T	XP_011509254.1:n.1544+32A>T
XM_011510951.2:c.1544+32A>T	XP_011509253.1:n.1544+32A>T
NM_173076.3:c.1544+32A>T MANE Select	NP_775099.2:n.1544+32A>T
NR_103740.2:n.1986+32A>T
NM_015657.4:c.590+32A>T	NP_056472.2:n.590+32A>T