Canonical Allele Identifier: CA413253332

Gene: SMC1A

Linked Data

• gnomAD v4: X-53405665-G-A
• MyVariant Identifiers: chrX:g.53432597G>A (hg19) ; chrX:g.53405665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405665G>A , CM000685.2:g.53405665G>A	GRCh38
NC_000023.10:g.53432597G>A , CM000685.1:g.53432597G>A	GRCh37
NC_000023.9:g.53449322G>A	NCBI36
NG_006988.2:g.22006C>T , LRG_773:g.22006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1739C>T MANE Select	ENSP00000323421.3:p.Pro580Leu
ENST00000674590.1:c.971C>T	ENSP00000502626.1:p.Pro324Leu
ENST00000675065.1:n.1091C>T
ENST00000675504.1:c.1673C>T	ENSP00000502524.1:p.Pro558Leu
ENST00000322213.8:c.1739C>T	ENSP00000323421.3:p.Pro580Leu
ENST00000375340.10:c.1673C>T	ENSP00000364489.7:p.Pro558Leu
NM_001281463.1:c.1673C>T , LRG_773t1:c.1673C>T	NP_001268392.1:p.Pro558Leu
NM_006306.3:c.1739C>T , LRG_773t2:c.1739C>T	NP_006297.2:p.Pro580Leu
NM_006306.4:c.1739C>T MANE Select	NP_006297.2:p.Pro580Leu