Canonical Allele Identifier: CA1528880546

Linked Data

dbSNP Id: rs1737455081

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716276T>G , CM000667.2:g.14716276T>G GRCh38
NC_000005.9:g.14716385T>G , CM000667.1:g.14716385T>G GRCh37
NC_000005.8:g.14769385T>G NCBI36
NG_008273.1:g.160503A>C
NG_008273.2:g.160510A>C
NG_051625.1:g.60483T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+430A>C (ANKH) MANE Select ENSP00000284268.6:n.1141+430A>C
ENST00000284268.6:c.1141+430A>C (ANKH) ENSP00000284268.6:n.1141+430A>C
ENST00000502585.1:n.383+430A>C (ANKH)
NM_054027.4:c.1141+430A>C (ANKH) NP_473368.1:n.1141+430A>C
NR_046285.1:n.2492-146T>G
NM_054027.5:c.1141+430A>C (ANKH) NP_473368.1:n.1141+430A>C
XM_011514151.2:c.*3601T>G (OTULIN) XP_011512453.1:n.*3601T>G
XM_017009644.2:c.1057+430A>C (ANKH) XP_016865133.1:n.1057+430A>C
NM_054027.6:c.1141+430A>C (ANKH) MANE Select NP_473368.1:n.1141+430A>C