Canonical Allele Identifier: CA2673308101

Linked Data

gnomAD v4: 5-14706864-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14706864A>T , CM000667.2:g.14706864A>T GRCh38
NC_000005.9:g.14706973A>T , CM000667.1:g.14706973A>T GRCh37
NC_000005.8:g.14759973A>T NCBI36
NG_008273.1:g.169915T>A
NG_008273.2:g.169922T>A
NG_051625.1:g.51071A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.*4333T>A (ANKH) MANE Select ENSP00000284268.6:n.*4333T>A
ENST00000284268.6:c.*4333T>A (ANKH) ENSP00000284268.6:n.*4333T>A
NM_054027.4:c.*4333T>A (ANKH) NP_473368.1:n.*4333T>A
XM_011514151.1:c.*47-5858A>T (OTULIN) XP_011512453.1:n.*47-5858A>T
XM_011514152.1:c.*47-2074A>T (OTULIN) XP_011512454.1:n.*47-2074A>T
NM_054027.5:c.*4333T>A (ANKH) NP_473368.1:n.*4333T>A
XM_011514151.2:c.*47-5858A>T (OTULIN) XP_011512453.1:n.*47-5858A>T
XM_011514152.2:c.*47-2074A>T (OTULIN) XP_011512454.1:n.*47-2074A>T
NM_054027.6:c.*4333T>A (ANKH) MANE Select NP_473368.1:n.*4333T>A