Canonical Allele Identifier: CA5369954

Gene: NSMF

Linked Data

• dbSNP Id: rs776144761
• ExAC: 9:140344030 G / A
• gnomAD v2: 9-140344030-G-A
• gnomAD v3: 9-137449578-G-A
• gnomAD v4: 9-137449578-G-A
• MyVariant Identifiers: chr9:g.140344030G>A (hg19) ; chr9:g.137449578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137449578G>A , CM000671.2:g.137449578G>A	GRCh38
NC_000009.11:g.140344030G>A , CM000671.1:g.140344030G>A	GRCh37
NC_000009.10:g.139463851G>A	NCBI36
NG_021362.1:g.14757C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265663.12:c.1489+21C>T	ENSP00000265663.7:n.1489+21C>T
ENST00000371475.9:c.1495+21C>T MANE Select	ENSP00000360530.3:n.1495+21C>T
ENST00000265663.11:c.1489+21C>T	ENSP00000265663.7:n.1489+21C>T
ENST00000339554.7:c.886+21C>T	ENSP00000342966.3:n.886+21C>T
ENST00000371472.6:c.1489+21C>T	ENSP00000360527.1:n.1489+21C>T
ENST00000371473.7:c.1405+21C>T	ENSP00000360528.3:n.1405+21C>T
ENST00000371474.7:c.1420+21C>T	ENSP00000360529.3:n.1420+21C>T
ENST00000371475.7:c.1495+21C>T	ENSP00000360530.3:n.1495+21C>T
ENST00000371482.5:c.487+21C>T	ENSP00000360537.1:n.487+21C>T
ENST00000437259.5:c.1426+21C>T	ENSP00000412007.1:n.1426+21C>T
NM_001130969.1:c.1495+21C>T	NP_001124441.1:n.1495+21C>T
NM_001130970.1:c.1426+21C>T	NP_001124442.1:n.1426+21C>T
NM_001130971.1:c.1420+21C>T	NP_001124443.1:n.1420+21C>T
NM_001178064.1:c.1405+21C>T	NP_001171535.1:n.1405+21C>T
NM_015537.4:c.1489+21C>T	NP_056352.3:n.1489+21C>T
XM_005266061.3:c.1399+21C>T	XP_005266118.1:n.1399+21C>T
XM_005266062.3:c.1330+21C>T	XP_005266119.1:n.1330+21C>T
XM_011518496.1:c.1336+21C>T	XP_011516798.1:n.1336+21C>T
XM_011518497.1:c.694+21C>T	XP_011516799.1:n.694+21C>T
XM_005266061.5:c.1399+21C>T	XP_005266118.1:n.1399+21C>T
XM_005266062.5:c.1330+21C>T	XP_005266119.1:n.1330+21C>T
XM_011518496.3:c.1336+21C>T	XP_011516798.1:n.1336+21C>T
XM_011518497.2:c.694+21C>T	XP_011516799.1:n.694+21C>T
XM_017014597.2:c.967+21C>T	XP_016870086.1:n.967+21C>T
NM_001130969.3:c.1495+21C>T MANE Select	NP_001124441.1:n.1495+21C>T
NM_001130970.2:c.1426+21C>T	NP_001124442.1:n.1426+21C>T
NM_001130971.2:c.1420+21C>T	NP_001124443.1:n.1420+21C>T
NM_001178064.2:c.1405+21C>T	NP_001171535.1:n.1405+21C>T
NM_015537.5:c.1489+21C>T	NP_056352.3:n.1489+21C>T