Canonical Allele Identifier: CA351066634

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233760706T>A , CM000664.2:g.233760706T>A GRCh38
NC_000002.11:g.234669352T>A , CM000664.1:g.234669352T>A GRCh37
NC_000002.10:g.234334091T>A NCBI36
NG_002601.2:g.175963T>A
NG_033238.1:g.5434T>A , LRG_733:g.5434T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000305139.11:c.862-6328T>A MANE Select ENSP00000303174.6:p.=
ENST00000305208.10:c.419T>A MANE Select ENSP00000304845.5:p.Leu140Gln
ENST00000354728.5:c.856-6328T>A MANE Select ENSP00000346768.4:p.=
ENST00000373409.8:c.868-6328T>A MANE Select ENSP00000362508.4:p.=
ENST00000305139.10:c.862-6328T>A ENSP00000303174.6:p.=
ENST00000305208.9:c.419T>A ENSP00000304845.5:p.Leu140Gln
ENST00000344644.9:c.856-6328T>A ENSP00000343838.5:p.=
ENST00000354728.4:c.856-6328T>A ENSP00000346768.4:p.=
ENST00000360418.4:n.419T>A ENSP00000353593.3:p.Leu140Gln
ENST00000373409.7:c.868-6328T>A ENSP00000362508.3:p.=
ENST00000373414.3:n.868-6328T>A ENSP00000362513.3:p.=
ENST00000373424.5:c.61-6328T>A ENSP00000362523.1:p.=
ENST00000373426.3:n.856-6328T>A ENSP00000362525.3:p.=
ENST00000373445.1:c.856-6328T>A ENSP00000362544.1:p.=
ENST00000373450.4:c.856-6328T>A ENSP00000362549.4:p.=
ENST00000406651.1:c.61-6328T>A ENSP00000386107.1:p.=
ENST00000446481.6:c.61-6328T>A ENSP00000401541.1:p.=
ENST00000450233.1:n.868-6328T>A ENSP00000408608.1:p.=
ENST00000482026.5:c.868-6328T>A ENSP00000418532.1:p.=
ENST00000484784.2:n.442-6328T>A ENSP00000419780.2:p.=
NM_000463.2:c.419T>A , LRG_733t1:c.419T>A (UGT1A1) NP_000454.1:p.Leu140Gln
NM_001072.3:c.862-6328T>A (UGT1A6) NP_001063.2:p.=
NM_007120.2:c.868-6328T>A (UGT1A4) NP_009051.1:p.=
NM_019075.2:c.856-6328T>A (UGT1A10) NP_061948.1:p.=
NM_019076.4:c.856-6328T>A (UGT1A8) NP_061949.3:p.=
NM_019077.2:n.856-6328T>A (UGT1A7) NP_061950.2:p.=
NM_019078.1:n.868-6328T>A (UGT1A5) NP_061951.1:p.=
NM_019093.2:n.868-6328T>A (UGT1A3) NP_061966.1:p.=
NM_021027.2:c.856-6328T>A (UGT1A9) NP_066307.1:p.=
NM_205862.1:c.61-6328T>A (UGT1A6) NP_995584.1:p.=
NM_001072.4:c.862-6328T>A (UGT1A6) MANE Select NP_001063.2:p.=
NM_021027.3:c.856-6328T>A (UGT1A9) MANE Select NP_066307.1:p.=
NM_000463.3:c.419T>A (UGT1A1) MANE Select NP_000454.1:p.Leu140Gln
NM_007120.3:c.868-6328T>A (UGT1A4) MANE Select NP_009051.1:p.=
NM_019093.4:c.868-6328T>A (UGT1A3) MANE Select NP_061966.1:p.=
NM_205862.2:c.61-6328T>A (UGT1A6) NP_995584.1:p.=
NM_019075.4:c.856-6328T>A (UGT1A10) NP_061948.1:p.=
NM_019076.5:c.856-6328T>A (UGT1A8) MANE Select NP_061949.3:p.=
NM_019077.3:c.856-6328T>A (UGT1A7) MANE Select NP_061950.2:p.=
NM_019078.2:c.868-6328T>A (UGT1A5) MANE Select NP_061951.1:p.=
NM_205862.3:c.61-6328T>A (UGT1A6) NP_995584.1:p.=