Canonical Allele Identifier: CA482146344
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs1313117946
gnomAD v2: 12-121174812-G-C
gnomAD v3: 12-120737009-G-C
gnomAD v4: 12-120737009-G-C
MyVariant Identifiers: chr12:g.121174812G>C (hg19) chr12:g.120737009G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737009G>C , CM000674.2:g.120737009G>C GRCh38
NC_000012.11:g.121174812G>C , CM000674.1:g.121174812G>C GRCh37
NC_000012.10:g.119659195G>C NCBI36
NG_007991.1:g.16242G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.234G>C MANE Select ENSP00000242592.4:p.Gly78=
ENST00000242592.8:c.234G>C ENSP00000242592.4:p.Gly78=
ENST00000411593.2:c.234G>C ENSP00000401045.2:p.Gly78=
ENST00000539690.1:n.346G>C
NM_000017.3:c.234G>C NP_000008.1:p.Gly78=
NM_001302554.1:c.234G>C NP_001289483.1:p.Gly78=
NM_000017.4:c.234G>C MANE Select NP_000008.1:p.Gly78=
NM_001302554.2:c.234G>C NP_001289483.1:p.Gly78=
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Search 100 bp 3'