Canonical Allele Identifier: CA14392196
Gene: TLCD3A HGNC NCBI
COSMIC:
COSN6659833 (not active)
MyVariant.info:
GRCh38 chr17:g.740186G>A
GRCh37 chr17:g.643426G>A
gnomAD v2:
17:643426 G / A
gnomAD v3:
17:740186 G / A
gnomAD v4:
chr17-740186-G-A
Joint Max Group AF 0.82683975 (AFR)
Genomes Max Group AF 0.82683975 (AFR)
dbSNP:
2740351
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.740186G>A , CM000679.2:g.740186G>A GRCh38
NC_000017.10:g.643426G>A , CM000679.1:g.643426G>A GRCh37
NC_000017.9:g.590176G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308278.13:c.409-319G>A MANE Select ENSP00000312017.7:n.409-319G>A
ENST00000301324.8:c.409-1115G>A ENSP00000301324.8:n.409-1115G>A
ENST00000308278.12:c.409-319G>A ENSP00000312017.7:n.409-319G>A
ENST00000570699.1:c.*287-319G>A ENSP00000458649.1:n.*287-319G>A
ENST00000572018.5:c.207-1115G>A ENSP00000460150.1:n.207-1115G>A
ENST00000574327.1:c.*85-319G>A ENSP00000458224.1:n.*85-319G>A
ENST00000577008.1:c.58-319G>A
NM_024792.1:c.409-319G>A NP_079068.1:n.409-319G>A
NM_001318006.1:c.409-1115G>A NP_001304935.1:n.409-1115G>A
NM_001318007.1:c.207-319G>A NP_001304936.1:n.207-319G>A
NM_001318008.1:c.207-1115G>A NP_001304937.1:n.207-1115G>A
NM_024792.2:c.409-319G>A NP_079068.1:n.409-319G>A
NM_024792.3:c.409-319G>A MANE Select NP_079068.1:n.409-319G>A
NM_001318006.2:c.409-1115G>A NP_001304935.1:n.409-1115G>A
NM_001318007.2:c.207-319G>A NP_001304936.1:n.207-319G>A
NM_001318008.2:c.207-1115G>A NP_001304937.1:n.207-1115G>A
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