Canonical Allele Identifier: CA641906939

Gene: SMC1A MIR6857

Linked Data

• dbSNP Id: rs1556889604
• gnomAD v2: X-53432635-C-A
• gnomAD v4: X-53405703-C-A
• MyVariant Identifiers: chrX:g.53432635C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405703C>A , CM000685.2:g.53405703C>A	GRCh38
NC_000023.10:g.53432635C>A , CM000685.1:g.53432635C>A	GRCh37
NC_000023.9:g.53449360C>A	NCBI36
NG_006988.2:g.21968G>T , LRG_773:g.21968G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1732-31G>T (SMC1A) MANE Select	ENSP00000323421.3:n.1732-31G>T
ENST00000674590.1:c.964-31G>T (SMC1A)	ENSP00000502626.1:n.964-31G>T
ENST00000675065.1:n.1084-31G>T (SMC1A)
ENST00000675504.1:c.1666-31G>T (SMC1A)	ENSP00000502524.1:n.1666-31G>T
ENST00000322213.8:c.1732-31G>T (SMC1A)	ENSP00000323421.3:n.1732-31G>T
ENST00000375340.10:c.1666-31G>T (SMC1A)	ENSP00000364489.7:n.1666-31G>T
NM_001281463.1:c.1666-31G>T , LRG_773t1:c.1666-31G>T (SMC1A)	NP_001268392.1:n.1666-31G>T
NM_006306.3:c.1732-31G>T , LRG_773t2:c.1732-31G>T (SMC1A)	NP_006297.2:n.1732-31G>T
NR_106916.1:n.63G>T (MIR6857)
NM_006306.4:c.1732-31G>T (SMC1A) MANE Select	NP_006297.2:n.1732-31G>T