Canonical Allele Identifier: CA56763722

Gene: ACMSD

Linked Data

• dbSNP Id: rs144219138
• gnomAD v2: 2-135599887-G-A
• gnomAD v3: 2-134842317-G-A
• gnomAD v4: 2-134842317-G-A
• MyVariant Identifiers: chr2:g.135599887G>A (hg19) ; chr2:g.134842317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.134842317G>A , CM000664.2:g.134842317G>A	GRCh38
NC_000002.11:g.135599887G>A , CM000664.1:g.135599887G>A	GRCh37
NC_000002.10:g.135316357G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356140.10:c.58-2916G>A MANE Select	ENSP00000348459.5:n.58-2916G>A
ENST00000356140.9:c.58-2916G>A	ENSP00000348459.5:n.58-2916G>A
ENST00000392928.5:c.-174-2048G>A	ENSP00000376659.1:n.-174-2048G>A
ENST00000485893.5:n.125-2916G>A
NM_001307983.1:c.-174-2048G>A	NP_001294912.1:n.-174-2048G>A
NM_138326.2:c.58-2916G>A	NP_612199.2:n.58-2916G>A
XM_005263586.3:c.58-2916G>A	XP_005263643.1:n.58-2916G>A
XM_005263588.3:c.-67-2916G>A	XP_005263645.1:n.-67-2916G>A
XM_005263589.3:c.-242-2042G>A	XP_005263646.1:n.-242-2042G>A
XM_011510592.1:c.-180-2042G>A	XP_011508894.1:n.-180-2042G>A
XM_005263586.4:c.58-2916G>A	XP_005263643.1:n.58-2916G>A
XM_005263588.4:c.-67-2916G>A	XP_005263645.1:n.-67-2916G>A
XM_005263589.4:c.-242-2042G>A	XP_005263646.1:n.-242-2042G>A
XM_011510592.2:c.-180-2042G>A	XP_011508894.1:n.-180-2042G>A
XM_017003325.1:c.-177-2045G>A	XP_016858814.1:n.-177-2045G>A
XM_017003326.1:c.-1217G>A	XP_016858815.1:n.-1217G>A
XM_024452690.1:c.-239-2045G>A	XP_024308458.1:n.-239-2045G>A
XM_024452691.1:c.-236-2048G>A	XP_024308459.1:n.-236-2048G>A
NM_138326.3:c.58-2916G>A MANE Select	NP_612199.2:n.58-2916G>A
NM_001307983.2:c.-174-2048G>A	NP_001294912.1:n.-174-2048G>A