Canonical Allele Identifier: CA641884583

Gene: SMC1A

Linked Data

• dbSNP Id: rs1482426280
• gnomAD v2: X-53405000-A-G
• gnomAD v3: X-53378079-A-G
• gnomAD v4: X-53378079-A-G
• MyVariant Identifiers: chrX:g.53405000A>G (hg19) ; chrX:g.53378079A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378079A>G , CM000685.2:g.53378079A>G	GRCh38
NC_000023.10:g.53405000A>G , CM000685.1:g.53405000A>G	GRCh37
NC_000023.9:g.53421725A>G	NCBI36
NG_006988.2:g.49592T>C , LRG_773:g.49592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*2024T>C MANE Select	ENSP00000323421.3:n.*2024T>C
ENST00000675504.1:c.*2024T>C	ENSP00000502524.1:n.*2024T>C
ENST00000322213.8:c.*2024T>C	ENSP00000323421.3:n.*2024T>C
ENST00000375340.10:c.*2024T>C	ENSP00000364489.7:n.*2024T>C
NM_001281463.1:c.*2024T>C , LRG_773t1:c.*2024T>C	NP_001268392.1:n.*2024T>C
NM_006306.3:c.*2024T>C , LRG_773t2:c.*2024T>C	NP_006297.2:n.*2024T>C
NM_006306.4:c.*2024T>C MANE Select	NP_006297.2:n.*2024T>C