Canonical Allele Identifier: CA413259002

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53440078T>A (hg19) ; chrX:g.53413128T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53413128T>A , CM000685.2:g.53413128T>A	GRCh38
NC_000023.10:g.53440078T>A , CM000685.1:g.53440078T>A	GRCh37
NC_000023.9:g.53456803T>A	NCBI36
NG_006988.2:g.14543A>T , LRG_773:g.14543A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.626A>T MANE Select	ENSP00000323421.3:p.Tyr209Phe
ENST00000674590.1:c.346-1227A>T	ENSP00000502626.1:n.346-1227A>T
ENST00000675065.1:n.466-1227A>T
ENST00000675504.1:c.560A>T	ENSP00000502524.1:p.Tyr187Phe
ENST00000322213.8:c.626A>T	ENSP00000323421.3:p.Tyr209Phe
ENST00000375340.10:c.560A>T	ENSP00000364489.7:p.Tyr187Phe
ENST00000428014.1:c.560A>T	ENSP00000413509.2:p.Tyr187Phe
ENST00000463684.1:c.*159A>T	ENSP00000476958.1:n.*159A>T
NM_001281463.1:c.560A>T , LRG_773t1:c.560A>T	NP_001268392.1:p.Tyr187Phe
NM_006306.3:c.626A>T , LRG_773t2:c.626A>T	NP_006297.2:p.Tyr209Phe
NM_006306.4:c.626A>T MANE Select	NP_006297.2:p.Tyr209Phe