Canonical Allele Identifier: CA2662978434

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980383-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980383T>C , CM000664.2:g.214980383T>C	GRCh38
NC_000002.11:g.215845107T>C , CM000664.1:g.215845107T>C	GRCh37
NC_000002.10:g.215553352T>C	NCBI36
NG_007074.1:g.163045A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4740+100A>G MANE Select	ENSP00000272895.7:n.4740+100A>G
ENST00000272895.11:c.4740+100A>G	ENSP00000272895.7:n.4740+100A>G
ENST00000389661.4:c.3786+100A>G	ENSP00000374312.4:n.3786+100A>G
NM_015657.3:c.3786+100A>G	NP_056472.2:n.3786+100A>G
NM_173076.2:c.4740+100A>G	NP_775099.2:n.4740+100A>G
NR_103740.1:n.5040+100A>G
XM_011510951.1:c.4749+100A>G	XP_011509253.1:n.4749+100A>G
XM_011510952.1:c.4749+100A>G	XP_011509254.1:n.4749+100A>G
XM_011510951.2:c.4749+100A>G	XP_011509253.1:n.4749+100A>G
NM_173076.3:c.4740+100A>G MANE Select	NP_775099.2:n.4740+100A>G
NR_103740.2:n.5238+100A>G
NM_015657.4:c.3786+100A>G	NP_056472.2:n.3786+100A>G