Canonical Allele Identifier: CA285676

Gene: MLYCD

Linked Data

• ClinVar Variation Id: 95503
• ClinVar RCV Id: RCV000081530 ; RCV000347623
• dbSNP Id: rs2278037
• ExAC: 16:83941726 C / T
• gnomAD v2: 16-83941726-C-T
• gnomAD v3: 16-83908121-C-T
• gnomAD v4: 16-83908121-C-T
• MyVariant Identifiers: chr16:g.83941726C>T (hg19) ; chr16:g.83908121C>T (hg38)
• PubMed: PMID:11550227

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.83908121C>T , CM000678.2:g.83908121C>T	GRCh38
NC_000016.9:g.83941726C>T , CM000678.1:g.83941726C>T	GRCh37
NC_000016.8:g.82499227C>T	NCBI36
NG_009079.1:g.13997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262430.6:c.642-5C>T MANE Select	ENSP00000262430.4:n.642-5C>T
ENST00000262430.5:c.642-5C>T	ENSP00000262430.4:n.642-5C>T
NM_012213.2:c.642-5C>T	NP_036345.2:n.642-5C>T
NM_012213.3:c.642-5C>T MANE Select	NP_036345.2:n.642-5C>T