Canonical Allele Identifier: CA415098637
Community Standard Title: NM_000033.4(ABCD1):c.331G>A (p.Val111Met)
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725597G>A , CM000685.2:g.153725597G>A GRCh38
NC_000023.10:g.152991052G>A , CM000685.1:g.152991052G>A GRCh37
NC_000023.9:g.152644246G>A NCBI36
NG_009022.2:g.5730G>A
NG_023231.1:g.4150C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000033.4:c.331G>A MANE Select NP_000024.2:p.Val111Met
ENST00000218104.6:c.331G>A MANE Select ENSP00000218104.3:p.Val111Met
NM_000033.3:c.331G>A NP_000024.2:p.Val111Met
ENST00000218104.5:c.331G>A ENSP00000218104.3:p.Val111Met
XR_938507.1:n.747G>A
XR_938507.2:n.747G>A
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