Canonical Allele Identifier: CA14643263
Gene: TMEM91 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41354391A>G
GRCh37 chr19:g.41860296A>G
gnomAD v2:
19:41860296 A / G
gnomAD v3:
19:41354391 A / G
gnomAD v4:
chr19-41354391-A-G
Joint Max Group AF 0.75581298 (AFR)
Genomes Max Group AF 0.75623971 (AFR)
Exomes Max Group AF 0.74478034 (AFR)
ClinVar RCV:
RCV001516679
RCV001598618
ClinVar Variation:
39302
dbSNP:
1800469
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354391A>G , CM000681.2:g.41354391A>G GRCh38
NC_000019.9:g.41860296A>G , CM000681.1:g.41860296A>G GRCh37
NC_000019.8:g.46552136A>G NCBI36
NG_013091.1:g.14783T>C
NG_013364.1:g.4536T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000539627.5:c.-30+3189A>G ENSP00000441900.1:n.-30+3189A>G
ENST00000604123.5:c.142+76A>G ENSP00000474871.1:n.142+76A>G
ENST00000604424.1:n.350+3189A>G
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