Canonical Allele Identifier: CA414969926

Gene: TBL1Y

Linked Data

• dbSNP Id: rs1241596043
• gnomAD v2: Y-6938861-G-A
• gnomAD v3: Y-7070820-G-A
• gnomAD v4: Y-7070820-G-A
• MyVariant Identifiers: chrY:g.6938861G>A (hg19) ; chrY:g.7070820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7070820G>A , CM000686.2:g.7070820G>A	GRCh38
NC_000024.9:g.6938861G>A , CM000686.1:g.6938861G>A	GRCh37
NC_000024.8:g.6998861G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383032.6:c.691G>A MANE Select	ENSP00000372499.1:p.Asp231Asn
ENST00000346432.3:c.691G>A	ENSP00000328879.4:p.Asp231Asn
ENST00000355162.6:c.691G>A	ENSP00000347289.2:p.Asp231Asn
ENST00000383032.5:c.691G>A	ENSP00000372499.1:p.Asp231Asn
NM_033284.1:c.691G>A	NP_150600.1:p.Asp231Asn
NM_134258.1:c.691G>A	NP_599020.1:p.Asp231Asn
NM_134259.1:c.691G>A	NP_599021.1:p.Asp231Asn
XM_005262572.2:c.733G>A	XP_005262629.1:p.Asp245Asn
XM_005262572.3:c.733G>A	XP_005262629.1:p.Asp245Asn
XM_017030086.1:c.691G>A	XP_016885575.1:p.Asp231Asn
XM_017030087.1:c.691G>A	XP_016885576.1:p.Asp231Asn
XM_024452497.1:c.691G>A	XP_024308265.1:p.Asp231Asn
NM_033284.2:c.691G>A MANE Select	NP_150600.1:p.Asp231Asn
NM_134258.2:c.691G>A	NP_599020.1:p.Asp231Asn
NM_134259.2:c.691G>A	NP_599021.1:p.Asp231Asn