Canonical Allele Identifier: CA16242330
Gene: MEIKIN HGNC NCBI
COSMIC:
COSN20364992 (not active)
MyVariant.info:
GRCh38 chr5:g.131939816G>A
GRCh37 chr5:g.131275509G>A
gnomAD v2:
5:131275509 G / A
gnomAD v3:
5:131939816 G / A
gnomAD v4:
chr5-131939816-G-A
Joint Max Group AF 0.60202045 (AFR)
Genomes Max Group AF 0.60202045 (AFR)
dbSNP:
667437
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.131939816G>A , CM000667.2:g.131939816G>A GRCh38
NC_000005.9:g.131275509G>A , CM000667.1:g.131275509G>A GRCh37
NC_000005.8:g.131303408G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000442687.6:c.349+2819C>T MANE Select ENSP00000488568.1:n.349+2819C>T
ENST00000652469.1:c.*213+4849C>T ENSP00000498837.1:n.*213+4849C>T
ENST00000413683.5:c.*274+2819C>T ENSP00000415140.1:n.*274+2819C>T
ENST00000425320.1:n.189+2819C>T
ENST00000442687.5:c.349+2819C>T ENSP00000488568.1:n.349+2819C>T
ENST00000616644.2:c.349+2819C>T ENSP00000481155.1:n.349+2819C>T
NM_001303622.1:c.349+2819C>T NP_001290551.1:n.349+2819C>T
NM_001303622.2:c.349+2819C>T MANE Select NP_001290551.1:n.349+2819C>T
Search 100 bp 5'
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