Canonical Allele Identifier: CA340136

Gene: MLYCD

Linked Data

• ClinVar Variation Id: 4059
• ClinVar RCV Id: RCV000004274
• dbSNP Id: rs121908081
• gnomAD v2: 16-83932757-G-A
• gnomAD v3: 16-83899152-G-A
• gnomAD v4: 16-83899152-G-A
• MyVariant Identifiers: chr16:g.83932757G>A (hg19) ; chr16:g.83899152G>A (hg38)
• PubMed: PMID:6145813 ; PMID:12955715

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.83899152G>A , CM000678.2:g.83899152G>A	GRCh38
NC_000016.9:g.83932757G>A , CM000678.1:g.83932757G>A	GRCh37
NC_000016.8:g.82490258G>A	NCBI36
NG_009079.1:g.5028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262430.6:c.8G>A MANE Select	ENSP00000262430.4:p.Gly3Asp
ENST00000262430.5:c.8G>A	ENSP00000262430.4:p.Gly3Asp
NM_012213.2:c.8G>A	NP_036345.2:p.Gly3Asp
NM_012213.3:c.8G>A MANE Select	NP_036345.2:p.Gly3Asp