Canonical Allele Identifier: CA10420486

Gene: SMC1A

Linked Data

• dbSNP Id: rs781784203
• ExAC: X:53432119 G / A
• gnomAD v2: X-53432119-G-A
• MyVariant Identifiers: chrX:g.53432119G>A (hg19) ; chrX:g.53405187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405187G>A , CM000685.2:g.53405187G>A	GRCh38
NC_000023.10:g.53432119G>A , CM000685.1:g.53432119G>A	GRCh37
NC_000023.9:g.53448844G>A	NCBI36
NG_006988.2:g.22484C>T , LRG_773:g.22484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2059-38C>T MANE Select	ENSP00000323421.3:n.2059-38C>T
ENST00000674590.1:c.1291-38C>T	ENSP00000502626.1:n.1291-38C>T
ENST00000675065.1:n.1411-38C>T
ENST00000675504.1:c.1993-38C>T	ENSP00000502524.1:n.1993-38C>T
ENST00000322213.8:c.2059-38C>T	ENSP00000323421.3:n.2059-38C>T
ENST00000375340.10:c.1993-38C>T	ENSP00000364489.7:n.1993-38C>T
NM_001281463.1:c.1993-38C>T , LRG_773t1:c.1993-38C>T	NP_001268392.1:n.1993-38C>T
NM_006306.3:c.2059-38C>T , LRG_773t2:c.2059-38C>T	NP_006297.2:n.2059-38C>T
NM_006306.4:c.2059-38C>T MANE Select	NP_006297.2:n.2059-38C>T