Canonical Allele Identifier: CA364614463
Gene: BMP5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.55819698T>C
GRCh37 chr6:g.55684496T>C
Revel Score:
ENST00000370830 (MANE Select) 0.065
ENST00000446683 0.065
gnomAD v2:
6:55684496 T / C
gnomAD v3:
6:55819698 T / C
gnomAD v4:
chr6-55819698-T-C
Joint Max Group AF 0.00000554 (AMR)
Genomes Max Group AF 0.00002263 (AMR)
ClinVar RCV:
RCV004100183
ClinVar Variation:
2244746
dbSNP:
1361619185
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55819698T>C , CM000668.2:g.55819698T>C GRCh38
NC_000006.11:g.55684496T>C , CM000668.1:g.55684496T>C GRCh37
NC_000006.10:g.55792455T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370830.4:c.640A>G MANE Select ENSP00000359866.3:p.Ile214Val
ENST00000370830.3:c.640A>G ENSP00000359866.3:p.Ile214Val
NM_021073.2:c.640A>G NP_066551.1:p.Ile214Val
XM_005249304.2:c.640A>G XP_005249361.1:p.Ile214Val
XM_011514816.1:c.640A>G XP_011513118.1:p.Ile214Val
XM_011514817.1:c.640A>G XP_011513119.1:p.Ile214Val
NM_001329754.1:c.640A>G NP_001316683.1:p.Ile214Val
NM_001329756.1:c.640A>G NP_001316685.1:p.Ile214Val
NM_021073.3:c.640A>G NP_066551.1:p.Ile214Val
XM_011514817.3:c.640A>G XP_011513119.1:p.Ile214Val
XM_024446524.1:c.640A>G XP_024302292.1:p.Ile214Val
NM_021073.4:c.640A>G MANE Select NP_066551.1:p.Ile214Val
NM_001329754.2:c.640A>G NP_001316683.1:p.Ile214Val
NM_001329756.2:c.640A>G NP_001316685.1:p.Ile214Val
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