Canonical Allele Identifier: CA516688857

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53440086A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53413136A>C , CM000685.2:g.53413136A>C	GRCh38
NC_000023.10:g.53440086A>C , CM000685.1:g.53440086A>C	GRCh37
NC_000023.9:g.53456811A>C	NCBI36
NG_006988.2:g.14535T>G , LRG_773:g.14535T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.618T>G MANE Select	ENSP00000323421.3:p.Ala206=
ENST00000674590.1:c.346-1235T>G	ENSP00000502626.1:n.346-1235T>G
ENST00000675065.1:n.466-1235T>G
ENST00000675504.1:c.552T>G	ENSP00000502524.1:p.Ala184=
ENST00000322213.8:c.618T>G	ENSP00000323421.3:p.Ala206=
ENST00000375340.10:c.552T>G	ENSP00000364489.7:p.Ala184=
ENST00000428014.1:c.552T>G	ENSP00000413509.2:p.Ala184=
ENST00000463684.1:c.*151T>G	ENSP00000476958.1:n.*151T>G
NM_001281463.1:c.552T>G , LRG_773t1:c.552T>G	NP_001268392.1:p.Ala184=
NM_006306.3:c.618T>G , LRG_773t2:c.618T>G	NP_006297.2:p.Ala206=
NM_006306.4:c.618T>G MANE Select	NP_006297.2:p.Ala206=