Canonical Allele Identifier: CA292612

Gene: NSMF

Linked Data

• ClinVar Variation Id: 138563
• ClinVar RCV Id: RCV000127262 ; RCV000880847
• dbSNP Id: rs587781103
• ExAC: 9:140353475 C / T
• gnomAD v2: 9-140353475-C-T
• gnomAD v3: 9-137459023-C-T
• gnomAD v4: 9-137459023-C-T
• MyVariant Identifiers: chr9:g.140353475C>T (hg19) ; chr9:g.137459023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137459023C>T , CM000671.2:g.137459023C>T	GRCh38
NC_000009.11:g.140353475C>T , CM000671.1:g.140353475C>T	GRCh37
NC_000009.10:g.139473296C>T	NCBI36
NG_021362.1:g.5312G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265663.12:c.71+9G>A	ENSP00000265663.7:n.71+9G>A
ENST00000371475.9:c.71+9G>A MANE Select	ENSP00000360530.3:n.71+9G>A
ENST00000265663.11:c.71+9G>A	ENSP00000265663.7:n.71+9G>A
ENST00000371472.6:c.71+9G>A	ENSP00000360527.1:n.71+9G>A
ENST00000371473.7:c.71+9G>A	ENSP00000360528.3:n.71+9G>A
ENST00000371474.7:c.71+9G>A	ENSP00000360529.3:n.71+9G>A
ENST00000371475.7:c.71+9G>A	ENSP00000360530.3:n.71+9G>A
ENST00000437259.5:c.71+9G>A	ENSP00000412007.1:n.71+9G>A
NM_001130969.1:c.71+9G>A	NP_001124441.1:n.71+9G>A
NM_001130970.1:c.71+9G>A	NP_001124442.1:n.71+9G>A
NM_001130971.1:c.71+9G>A	NP_001124443.1:n.71+9G>A
NM_001178064.1:c.71+9G>A	NP_001171535.1:n.71+9G>A
NM_015537.4:c.71+9G>A	NP_056352.3:n.71+9G>A
XM_005266061.3:c.71+9G>A	XP_005266118.1:n.71+9G>A
XM_005266062.3:c.71+9G>A	XP_005266119.1:n.71+9G>A
XM_011518496.1:c.71+9G>A	XP_011516798.1:n.71+9G>A
XM_005266061.5:c.71+9G>A	XP_005266118.1:n.71+9G>A
XM_005266062.5:c.71+9G>A	XP_005266119.1:n.71+9G>A
XM_011518496.3:c.71+9G>A	XP_011516798.1:n.71+9G>A
NM_001130969.3:c.71+9G>A MANE Select	NP_001124441.1:n.71+9G>A
NM_001130970.2:c.71+9G>A	NP_001124442.1:n.71+9G>A
NM_001130971.2:c.71+9G>A	NP_001124443.1:n.71+9G>A
NM_001178064.2:c.71+9G>A	NP_001171535.1:n.71+9G>A
NM_015537.5:c.71+9G>A	NP_056352.3:n.71+9G>A