Canonical Allele Identifier: CA413258132

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53439203C>G (hg19) ; chrX:g.53412253C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412253C>G , CM000685.2:g.53412253C>G	GRCh38
NC_000023.10:g.53439203C>G , CM000685.1:g.53439203C>G	GRCh37
NC_000023.9:g.53455928C>G	NCBI36
NG_006988.2:g.15418G>C , LRG_773:g.15418G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.855G>C MANE Select	ENSP00000323421.3:p.Lys285Asn
ENST00000674590.1:c.346-352G>C	ENSP00000502626.1:n.346-352G>C
ENST00000675065.1:n.466-352G>C
ENST00000675504.1:c.789G>C	ENSP00000502524.1:p.Lys263Asn
ENST00000322213.8:c.855G>C	ENSP00000323421.3:p.Lys285Asn
ENST00000375340.10:c.789G>C	ENSP00000364489.7:p.Lys263Asn
ENST00000463684.1:c.*388G>C	ENSP00000476958.1:n.*388G>C
NM_001281463.1:c.789G>C , LRG_773t1:c.789G>C	NP_001268392.1:p.Lys263Asn
NM_006306.3:c.855G>C , LRG_773t2:c.855G>C	NP_006297.2:p.Lys285Asn
NM_006306.4:c.855G>C MANE Select	NP_006297.2:p.Lys285Asn