Canonical Allele Identifier: CA516553725

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53407649C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380728C>G , CM000685.2:g.53380728C>G	GRCh38
NC_000023.10:g.53407649C>G , CM000685.1:g.53407649C>G	GRCh37
NC_000023.9:g.53424374C>G	NCBI36
NG_006988.2:g.46943G>C , LRG_773:g.46943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3510G>C MANE Select	ENSP00000323421.3:p.Val1170=
ENST00000674590.1:c.2742G>C	ENSP00000502626.1:p.Val914=
ENST00000675504.1:c.3444G>C	ENSP00000502524.1:p.Val1148=
ENST00000322213.8:c.3510G>C	ENSP00000323421.3:p.Val1170=
ENST00000375340.10:c.3444G>C	ENSP00000364489.7:p.Val1148=
ENST00000470241.2:c.730G>C
NM_001281463.1:c.3444G>C , LRG_773t1:c.3444G>C	NP_001268392.1:p.Val1148=
NM_006306.3:c.3510G>C , LRG_773t2:c.3510G>C	NP_006297.2:p.Val1170=
NM_006306.4:c.3510G>C MANE Select	NP_006297.2:p.Val1170=