Canonical Allele Identifier: CA2662978049
Gene: ABCA12 HGNC NCBI

Linked Data

gnomAD v4: 2-214978685-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978685A>T , CM000664.2:g.214978685A>T GRCh38
NC_000002.11:g.215843409A>T , CM000664.1:g.215843409A>T GRCh37
NC_000002.10:g.215551654A>T NCBI36
NG_007074.1:g.164743T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4977+119T>A MANE Select ENSP00000272895.7:n.4977+119T>A
ENST00000272895.11:c.4977+119T>A ENSP00000272895.7:n.4977+119T>A
ENST00000389661.4:c.4023+119T>A ENSP00000374312.4:n.4023+119T>A
NM_015657.3:c.4023+119T>A NP_056472.2:n.4023+119T>A
NM_173076.2:c.4977+119T>A NP_775099.2:n.4977+119T>A
NR_103740.1:n.5277+119T>A
XM_011510951.1:c.4986+119T>A XP_011509253.1:n.4986+119T>A
XM_011510952.1:c.4986+119T>A XP_011509254.1:n.4986+119T>A
XM_011510951.2:c.4986+119T>A XP_011509253.1:n.4986+119T>A
NM_173076.3:c.4977+119T>A MANE Select NP_775099.2:n.4977+119T>A
NR_103740.2:n.5475+119T>A
NM_015657.4:c.4023+119T>A NP_056472.2:n.4023+119T>A
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