Canonical Allele Identifier: CA2662986009
Gene: ABCA12 HGNC NCBI

Linked Data

gnomAD v4: 2-215064044-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064044C>A , CM000664.2:g.215064044C>A GRCh38
NC_000002.11:g.215928767C>A , CM000664.1:g.215928767C>A GRCh37
NC_000002.10:g.215637012C>A NCBI36
NG_007074.1:g.79385G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.317+22G>T MANE Select ENSP00000272895.7:n.317+22G>T
ENST00000272895.11:c.317+22G>T ENSP00000272895.7:n.317+22G>T
NM_173076.2:c.317+22G>T NP_775099.2:n.317+22G>T
NR_103740.1:n.537+22G>T
XM_011510951.1:c.317+22G>T XP_011509253.1:n.317+22G>T
XM_011510952.1:c.317+22G>T XP_011509254.1:n.317+22G>T
XM_011510951.2:c.317+22G>T XP_011509253.1:n.317+22G>T
NM_173076.3:c.317+22G>T MANE Select NP_775099.2:n.317+22G>T
NR_103740.2:n.735+22G>T
Search 100 bp 5'
Search 100 bp 3'