Canonical Allele Identifier: CA367637635

Gene: GUSB

Linked Data

• gnomAD v3: 7-65961043-T-C
• gnomAD v4: 7-65961043-T-C
• MyVariant Identifiers: chr7:g.65426030T>C (hg19) ; chr7:g.65961043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961043T>C , CM000669.2:g.65961043T>C	GRCh38
NC_000007.13:g.65426030T>C , CM000669.1:g.65426030T>C	GRCh37
NC_000007.12:g.65063465T>C	NCBI36
NG_016197.1:g.26272A>G
NG_051954.1:g.92945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1810A>G MANE Select	ENSP00000302728.4:p.Asn604Asp
ENST00000304895.8:c.1810A>G	ENSP00000302728.4:p.Asn604Asp
ENST00000421103.5:c.1372A>G	ENSP00000391390.1:p.Asn458Asp
ENST00000430730.5:c.*1077A>G	ENSP00000411859.1:n.*1077A>G
ENST00000447929.5:c.*1190A>G	ENSP00000411262.1:n.*1190A>G
ENST00000466883.5:n.2200A>G
NM_000181.3:c.1810A>G	NP_000172.2:p.Asn604Asp
NM_001284290.1:c.1372A>G	NP_001271219.1:p.Asn458Asp
NM_001293104.1:c.1240A>G	NP_001280033.1:p.Asn414Asp
NM_001293105.1:c.1153A>G	NP_001280034.1:p.Asn385Asp
NR_120531.1:n.1856A>G
XM_005250297.3:c.1657A>G	XP_005250354.1:p.Asn553Asp
XM_011516113.1:c.1309A>G	XP_011514415.1:p.Asn437Asp
XM_011516114.1:c.1138A>G	XP_011514416.1:p.Asn380Asp
XM_005250297.4:c.1657A>G	XP_005250354.1:p.Asn553Asp
XM_011516114.2:c.1138A>G	XP_011514416.1:p.Asn380Asp
XM_017012091.1:c.1156A>G	XP_016867580.1:p.Asn386Asp
XM_017012092.1:c.1087A>G	XP_016867581.1:p.Asn363Asp
XM_017012093.2:c.985A>G	XP_016867582.1:p.Asn329Asp
XR_001744658.2:n.1617A>G
XR_001744659.2:n.1730A>G
XR_001744660.2:n.1662A>G
XR_001744661.2:n.1577A>G
XR_927461.3:n.1815A>G
NM_000181.4:c.1810A>G MANE Select	NP_000172.2:p.Asn604Asp
NM_001284290.2:c.1372A>G	NP_001271219.1:p.Asn458Asp
NM_001293104.2:c.1240A>G	NP_001280033.1:p.Asn414Asp
NM_001293105.2:c.1153A>G	NP_001280034.1:p.Asn385Asp
NR_120531.2:n.1755A>G