Canonical Allele Identifier: CA2693805724

Gene: SMC1A

Linked Data

• gnomAD v4: X-53413144-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53413144C>G , CM000685.2:g.53413144C>G	GRCh38
NC_000023.10:g.53440094C>G , CM000685.1:g.53440094C>G	GRCh37
NC_000023.9:g.53456819C>G	NCBI36
NG_006988.2:g.14527G>C , LRG_773:g.14527G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.616-6G>C MANE Select	ENSP00000323421.3:n.616-6G>C
ENST00000674590.1:c.346-1243G>C	ENSP00000502626.1:n.346-1243G>C
ENST00000675065.1:n.466-1243G>C
ENST00000675504.1:c.550-6G>C	ENSP00000502524.1:n.550-6G>C
ENST00000322213.8:c.616-6G>C	ENSP00000323421.3:n.616-6G>C
ENST00000375340.10:c.550-6G>C	ENSP00000364489.7:n.550-6G>C
ENST00000428014.1:c.550-6G>C	ENSP00000413509.2:n.550-6G>C
ENST00000463684.1:c.*149-6G>C	ENSP00000476958.1:n.*149-6G>C
NM_001281463.1:c.550-6G>C , LRG_773t1:c.550-6G>C	NP_001268392.1:n.550-6G>C
NM_006306.3:c.616-6G>C , LRG_773t2:c.616-6G>C	NP_006297.2:n.616-6G>C
NM_006306.4:c.616-6G>C MANE Select	NP_006297.2:n.616-6G>C