Canonical Allele Identifier: CA393840200

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90749570G>C , CM000677.2:g.90749570G>C	GRCh38
NC_000015.9:g.91292800G>C , CM000677.1:g.91292800G>C	GRCh37
NC_000015.8:g.89093804G>C	NCBI36
NG_007272.1:g.37199G>C , LRG_20:g.37199G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.302G>C MANE Select	NP_000048.1:p.Arg101Thr
ENST00000355112.8:c.302G>C MANE Select	ENSP00000347232.3:p.Arg101Thr
NM_000057.3:c.302G>C	NP_000048.1:p.Arg101Thr
NM_001287246.1:c.302G>C	NP_001274175.1:p.Arg101Thr
NM_001287246.2:c.302G>C	NP_001274175.1:p.Arg101Thr
NM_001287247.1:c.302G>C	NP_001274176.1:p.Arg101Thr
NM_001287247.2:c.302G>C	NP_001274176.1:p.Arg101Thr
NM_001287248.1:c.-990G>C	NP_001274177.1:n.-990G>C
NM_001287248.2:c.-990G>C	NP_001274177.1:n.-990G>C
ENST00000355112.7:c.302G>C	ENSP00000347232.3:p.Arg101Thr
ENST00000559282.1:n.476G>C
ENST00000559724.5:c.302G>C	ENSP00000453359.1:p.Arg101Thr
ENST00000560509.5:c.302G>C	ENSP00000454158.1:p.Arg101Thr
ENST00000648453.1:c.302G>C	ENSP00000497646.1:p.Arg101Thr
ENST00000680772.1:c.302G>C	ENSP00000506117.1:p.Arg101Thr
ENST00000681142.1:c.302G>C	ENSP00000506682.1:p.Arg101Thr
XM_011521882.1:c.302G>C	XP_011520184.1:p.Arg101Thr
XM_011521882.3:c.302G>C	XP_011520184.1:p.Arg101Thr