Canonical Allele Identifier: CA641906938

Gene: SMC1A MIR6857

Linked Data

• ClinVar Variation Id: 2963974
• ClinVar RCV Id: RCV003825612
• dbSNP Id: rs1556889600
• gnomAD v2: X-53432610-G-A
• gnomAD v4: X-53405678-G-A
• MyVariant Identifiers: chrX:g.53432610G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405678G>A , CM000685.2:g.53405678G>A	GRCh38
NC_000023.10:g.53432610G>A , CM000685.1:g.53432610G>A	GRCh37
NC_000023.9:g.53449335G>A	NCBI36
NG_006988.2:g.21993C>T , LRG_773:g.21993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1732-6C>T (SMC1A) MANE Select	ENSP00000323421.3:n.1732-6C>T
ENST00000674590.1:c.964-6C>T (SMC1A)	ENSP00000502626.1:n.964-6C>T
ENST00000675065.1:n.1084-6C>T (SMC1A)
ENST00000675504.1:c.1666-6C>T (SMC1A)	ENSP00000502524.1:n.1666-6C>T
ENST00000322213.8:c.1732-6C>T (SMC1A)	ENSP00000323421.3:n.1732-6C>T
ENST00000375340.10:c.1666-6C>T (SMC1A)	ENSP00000364489.7:n.1666-6C>T
NM_001281463.1:c.1666-6C>T , LRG_773t1:c.1666-6C>T (SMC1A)	NP_001268392.1:n.1666-6C>T
NM_006306.3:c.1732-6C>T , LRG_773t2:c.1732-6C>T (SMC1A)	NP_006297.2:n.1732-6C>T
NR_106916.1:n.88C>T (MIR6857)
NM_006306.4:c.1732-6C>T (SMC1A) MANE Select	NP_006297.2:n.1732-6C>T