Canonical Allele Identifier: CA10647527

Gene: BLM

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90815276A>C , CM000677.2:g.90815276A>C	GRCh38
NC_000015.9:g.91358506A>C , CM000677.1:g.91358506A>C	GRCh37
NC_000015.8:g.89159510A>C	NCBI36
NG_007272.1:g.102905A>C , LRG_20:g.102905A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4251A>C MANE Select	ENSP00000347232.3:p.Ser1417=
ENST00000560559.2:n.2824A>C
ENST00000648453.1:c.*213A>C	ENSP00000497646.1:n.*213A>C
ENST00000680772.1:c.4251A>C	ENSP00000506117.1:p.Ser1417=
ENST00000355112.7:c.4251A>C	ENSP00000347232.3:p.Ser1417=
ENST00000558825.5:n.1598A>C
ENST00000559724.5:c.*3175A>C	ENSP00000453359.1:n.*3175A>C
ENST00000560509.5:c.3858A>C	ENSP00000454158.1:p.Ser1286=
ENST00000560821.1:n.671A>C
NM_000057.3:c.4251A>C	NP_000048.1:p.Ser1417=
NM_001287246.1:c.4251A>C	NP_001274175.1:p.Ser1417=
NM_001287247.1:c.3858A>C	NP_001274176.1:p.Ser1286=
NM_001287248.1:c.3126A>C	NP_001274177.1:p.Ser1042=
XM_006720632.2:c.2289A>C	XP_006720695.1:p.Ser763=
XM_011521881.1:c.2937A>C	XP_011520183.1:p.Ser979=
XM_011521881.2:c.2937A>C	XP_011520183.1:p.Ser979=
NM_000057.4:c.4251A>C MANE Select	NP_000048.1:p.Ser1417=
NM_001287246.2:c.4251A>C	NP_001274175.1:p.Ser1417=
NM_001287247.2:c.3858A>C	NP_001274176.1:p.Ser1286=
NM_001287248.2:c.3126A>C	NP_001274177.1:p.Ser1042=