Canonical Allele Identifier: CA413259026

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53440084T>G (hg19) ; chrX:g.53413134T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53413134T>G , CM000685.2:g.53413134T>G	GRCh38
NC_000023.10:g.53440084T>G , CM000685.1:g.53440084T>G	GRCh37
NC_000023.9:g.53456809T>G	NCBI36
NG_006988.2:g.14537A>C , LRG_773:g.14537A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.620A>C MANE Select	ENSP00000323421.3:p.Asp207Ala
ENST00000674590.1:c.346-1233A>C	ENSP00000502626.1:n.346-1233A>C
ENST00000675065.1:n.466-1233A>C
ENST00000675504.1:c.554A>C	ENSP00000502524.1:p.Asp185Ala
ENST00000322213.8:c.620A>C	ENSP00000323421.3:p.Asp207Ala
ENST00000375340.10:c.554A>C	ENSP00000364489.7:p.Asp185Ala
ENST00000428014.1:c.554A>C	ENSP00000413509.2:p.Asp185Ala
ENST00000463684.1:c.*153A>C	ENSP00000476958.1:n.*153A>C
NM_001281463.1:c.554A>C , LRG_773t1:c.554A>C	NP_001268392.1:p.Asp185Ala
NM_006306.3:c.620A>C , LRG_773t2:c.620A>C	NP_006297.2:p.Asp207Ala
NM_006306.4:c.620A>C MANE Select	NP_006297.2:p.Asp207Ala