Canonical Allele Identifier: CA285675

Gene: MLYCD

Linked Data

• ClinVar Variation Id: 95501
• ClinVar RCV Id: RCV000081528 ; RCV000609599
• dbSNP Id: rs446036
• ExAC: 16:83933296 T / C
• gnomAD v2: 16-83933296-T-C
• gnomAD v3: 16-83899691-T-C
• gnomAD v4: 16-83899691-T-C
• MyVariant Identifiers: chr16:g.83933296T>C (hg19) ; chr16:g.83899691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.83899691T>C , CM000678.2:g.83899691T>C	GRCh38
NC_000016.9:g.83933296T>C , CM000678.1:g.83933296T>C	GRCh37
NC_000016.8:g.82490797T>C	NCBI36
NG_009079.1:g.5567T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262430.6:c.528+19T>C MANE Select	ENSP00000262430.4:n.528+19T>C
ENST00000262430.5:c.528+19T>C	ENSP00000262430.4:n.528+19T>C
NM_012213.2:c.528+19T>C	NP_036345.2:n.528+19T>C
NM_012213.3:c.528+19T>C MANE Select	NP_036345.2:n.528+19T>C