Canonical Allele Identifier: CA3864601

Gene: BMP5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55755594C>G , CM000668.2:g.55755594C>G	GRCh38
NC_000006.11:g.55620392C>G , CM000668.1:g.55620392C>G	GRCh37
NC_000006.10:g.55728351C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_021073.4:c.1304G>C MANE Select	NP_066551.1:p.Ser435Thr
ENST00000370830.4:c.1304G>C MANE Select	ENSP00000359866.3:p.Ser435Thr
NM_001329754.1:c.1193G>C	NP_001316683.1:p.Ser398Thr
NM_001329754.2:c.1193G>C	NP_001316683.1:p.Ser398Thr
NM_001329756.1:c.*69G>C	NP_001316685.1:n.*69G>C
NM_001329756.2:c.*69G>C	NP_001316685.1:n.*69G>C
NM_021073.2:c.1304G>C	NP_066551.1:p.Ser435Thr
NM_021073.3:c.1304G>C	NP_066551.1:p.Ser435Thr
ENST00000370830.3:c.1304G>C	ENSP00000359866.3:p.Ser435Thr
XM_005249304.2:c.*69G>C	XP_005249361.1:n.*69G>C
XM_011514816.1:c.1193G>C	XP_011513118.1:p.Ser398Thr