Canonical Allele Identifier: CA1042226380

Gene: ABCA12

Linked Data

• dbSNP Id: rs1701587881
• gnomAD v3: 2-215064018-A-G
• gnomAD v4: 2-215064018-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215064018A>G , CM000664.2:g.215064018A>G	GRCh38
NC_000002.11:g.215928741A>G , CM000664.1:g.215928741A>G	GRCh37
NC_000002.10:g.215636986A>G	NCBI36
NG_007074.1:g.79411T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.317+48T>C MANE Select	ENSP00000272895.7:n.317+48T>C
ENST00000272895.11:c.317+48T>C	ENSP00000272895.7:n.317+48T>C
NM_173076.2:c.317+48T>C	NP_775099.2:n.317+48T>C
NR_103740.1:n.537+48T>C
XM_011510951.1:c.317+48T>C	XP_011509253.1:n.317+48T>C
XM_011510952.1:c.317+48T>C	XP_011509254.1:n.317+48T>C
XM_011510951.2:c.317+48T>C	XP_011509253.1:n.317+48T>C
NM_173076.3:c.317+48T>C MANE Select	NP_775099.2:n.317+48T>C
NR_103740.2:n.735+48T>C