Canonical Allele Identifier: CA325066497
Gene: SMC1B HGNC NCBI

Linked Data

dbSNP Id: rs41279793
gnomAD v2: 22-45740018-G-A
gnomAD v3: 22-45344137-G-A
gnomAD v4: 22-45344137-G-A
MyVariant Identifiers: chr22:g.45740018G>A (hg19) chr22:g.45344137G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344137G>A , CM000684.2:g.45344137G>A GRCh38
NC_000022.10:g.45740018G>A , CM000684.1:g.45740018G>A GRCh37
NC_000022.9:g.44118682G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*419C>T MANE Select ENSP00000350036.4:n.*419C>T
ENST00000357450.8:c.4127C>T ENSP00000350036.4:n.4127C>T
NM_001291501.1:c.*419C>T NP_001278430.1:n.*419C>T
NM_148674.4:c.*419C>T NP_683515.4:n.*419C>T
XM_011530144.1:c.*419C>T XP_011528446.1:n.*419C>T
XR_244368.3:n.4116C>T
XM_011530144.2:c.*419C>T XP_011528446.1:n.*419C>T
XR_244368.4:n.4161C>T
NM_148674.5:c.*419C>T MANE Select NP_683515.4:n.*419C>T
NM_001291501.2:c.*419C>T NP_001278430.1:n.*419C>T
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