Canonical Allele Identifier: CA2178423

Linked Data

ClinVar Variation Id: 440378
ClinVar RCV Id: RCV000507370
dbSNP Id: rs6759892

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233693023T>G , CM000664.2:g.233693023T>G GRCh38
NC_000002.11:g.234601669T>G , CM000664.1:g.234601669T>G GRCh37
NC_000002.10:g.234266408T>G NCBI36
NG_002601.2:g.108280T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305139.11:c.19T>G MANE Select ENSP00000303174.6:p.Ser7Ala
ENST00000354728.5:c.855+20234T>G MANE Select ENSP00000346768.4:p.=
ENST00000305139.10:c.19T>G ENSP00000303174.6:p.Ser7Ala
ENST00000344644.9:c.855+55646T>G ENSP00000343838.5:p.=
ENST00000354728.4:c.855+20234T>G ENSP00000346768.4:p.=
ENST00000373424.5:c.-7-776T>G ENSP00000362523.1:p.=
ENST00000373426.3:n.855+10231T>G ENSP00000362525.3:p.=
ENST00000373445.1:c.855+55646T>G ENSP00000362544.1:p.=
ENST00000373450.4:c.856-74011T>G ENSP00000362549.4:p.=
ENST00000441351.1:c.19T>G ENSP00000389637.1:p.Ser7Ala
ENST00000446481.6:c.-7-776T>G ENSP00000401541.1:p.=
ENST00000480628.1:n.120-776T>G
NM_001072.3:c.19T>G (UGT1A6) NP_001063.2:p.Ser7Ala
NM_019075.2:c.855+55646T>G (UGT1A10) NP_061948.1:p.=
NM_019076.4:c.856-74011T>G (UGT1A8) NP_061949.3:p.=
NM_019077.2:n.855+10231T>G (UGT1A7) NP_061950.2:p.=
NM_021027.2:c.855+20234T>G (UGT1A9) NP_066307.1:p.=
NM_205862.1:c.-7-776T>G (UGT1A6) NP_995584.1:p.=
NM_001072.4:c.19T>G (UGT1A6) MANE Select NP_001063.2:p.Ser7Ala
NM_021027.3:c.855+20234T>G (UGT1A9) MANE Select NP_066307.1:p.=
NM_205862.2:c.-7-776T>G (UGT1A6) NP_995584.1:p.=
NM_019075.4:c.855+55646T>G (UGT1A10) NP_061948.1:p.=
NM_019076.5:c.856-74011T>G (UGT1A8) MANE Select NP_061949.3:p.=
NM_019077.3:c.855+10231T>G (UGT1A7) MANE Select NP_061950.2:p.=
NM_205862.3:c.-7-776T>G (UGT1A6) NP_995584.1:p.=