Canonical Allele Identifier: CA340134
Gene: MLYCD HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.83907018C>G
GRCh37 chr16:g.83940623C>G
gnomAD v2:
16:83940623 C / G
gnomAD v3:
16:83907018 C / G
gnomAD v4:
chr16-83907018-C-G
Joint Max Group AF 0.00005274 (NFE)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00005074 (NFE)
ClinVar RCV:
RCV000004270
RCV001008651
ClinVar Variation:
4055
dbSNP:
104894528
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.83907018C>G , CM000678.2:g.83907018C>G GRCh38
NC_000016.9:g.83940623C>G , CM000678.1:g.83940623C>G GRCh37
NC_000016.8:g.82498124C>G NCBI36
NG_009079.1:g.12894C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262430.6:c.560C>G MANE Select ENSP00000262430.4:p.Ser187Ter
ENST00000262430.5:c.560C>G ENSP00000262430.4:p.Ser187Ter
NM_012213.2:c.560C>G NP_036345.2:p.Ser187Ter
NM_012213.3:c.560C>G MANE Select NP_036345.2:p.Ser187Ter
Search 100 bp 5'
Search 100 bp 3'