Canonical Allele Identifier: CA1327196937

Gene: ABCA12

Linked Data

• dbSNP Id: rs754551664
• gnomAD v4: 2-215064039-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215064039T>G , CM000664.2:g.215064039T>G	GRCh38
NC_000002.11:g.215928762T>G , CM000664.1:g.215928762T>G	GRCh37
NC_000002.10:g.215637007T>G	NCBI36
NG_007074.1:g.79390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.317+27A>C MANE Select	ENSP00000272895.7:n.317+27A>C
ENST00000272895.11:c.317+27A>C	ENSP00000272895.7:n.317+27A>C
NM_173076.2:c.317+27A>C	NP_775099.2:n.317+27A>C
NR_103740.1:n.537+27A>C
XM_011510951.1:c.317+27A>C	XP_011509253.1:n.317+27A>C
XM_011510952.1:c.317+27A>C	XP_011509254.1:n.317+27A>C
XM_011510951.2:c.317+27A>C	XP_011509253.1:n.317+27A>C
NM_173076.3:c.317+27A>C MANE Select	NP_775099.2:n.317+27A>C
NR_103740.2:n.735+27A>C