Canonical Allele Identifier: CA367637324

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960992-G-A
• MyVariant Identifiers: chr7:g.65425979G>A (hg19) ; chr7:g.65960992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960992G>A , CM000669.2:g.65960992G>A	GRCh38
NC_000007.13:g.65425979G>A , CM000669.1:g.65425979G>A	GRCh37
NC_000007.12:g.65063414G>A	NCBI36
NG_016197.1:g.26323C>T
NG_051954.1:g.92894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1861C>T MANE Select	ENSP00000302728.4:p.Leu621Phe
ENST00000304895.8:c.1861C>T	ENSP00000302728.4:p.Leu621Phe
ENST00000421103.5:c.1423C>T	ENSP00000391390.1:p.Leu475Phe
ENST00000430730.5:c.*1128C>T	ENSP00000411859.1:n.*1128C>T
ENST00000447929.5:c.*1241C>T	ENSP00000411262.1:n.*1241C>T
ENST00000466883.5:n.2251C>T
NM_000181.3:c.1861C>T	NP_000172.2:p.Leu621Phe
NM_001284290.1:c.1423C>T	NP_001271219.1:p.Leu475Phe
NM_001293104.1:c.1291C>T	NP_001280033.1:p.Leu431Phe
NM_001293105.1:c.1204C>T	NP_001280034.1:p.Leu402Phe
NR_120531.1:n.1907C>T
XM_005250297.3:c.1708C>T	XP_005250354.1:p.Leu570Phe
XM_011516113.1:c.1360C>T	XP_011514415.1:p.Leu454Phe
XM_011516114.1:c.1189C>T	XP_011514416.1:p.Leu397Phe
XM_005250297.4:c.1708C>T	XP_005250354.1:p.Leu570Phe
XM_011516114.2:c.1189C>T	XP_011514416.1:p.Leu397Phe
XM_017012091.1:c.1207C>T	XP_016867580.1:p.Leu403Phe
XM_017012092.1:c.1138C>T	XP_016867581.1:p.Leu380Phe
XM_017012093.2:c.1036C>T	XP_016867582.1:p.Leu346Phe
XR_001744658.2:n.1668C>T
XR_001744659.2:n.1781C>T
XR_001744660.2:n.1713C>T
XR_001744661.2:n.1628C>T
XR_927461.3:n.1866C>T
NM_000181.4:c.1861C>T MANE Select	NP_000172.2:p.Leu621Phe
NM_001284290.2:c.1423C>T	NP_001271219.1:p.Leu475Phe
NM_001293104.2:c.1291C>T	NP_001280033.1:p.Leu431Phe
NM_001293105.2:c.1204C>T	NP_001280034.1:p.Leu402Phe
NR_120531.2:n.1806C>T