Canonical Allele Identifier: CA3209271

Gene: ANKH

Linked Data

• ClinVar Variation Id: 351926
• ClinVar RCV Id: RCV000275449 ; RCV000309955 ; RCV001510110
• dbSNP Id: rs78431233
• ExAC: 5:14871560 C / T
• gnomAD v2: 5-14871560-C-T
• gnomAD v3: 5-14871451-C-T
• gnomAD v4: 5-14871451-C-T
• MyVariant Identifiers: chr5:g.14871560C>T (hg19) ; chr5:g.14871451C>T (hg38)
• PubMed: PMID:15818664 ; PMID:17563703

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871451C>T , CM000667.2:g.14871451C>T	GRCh38
NC_000005.9:g.14871560C>T , CM000667.1:g.14871560C>T	GRCh37
NC_000005.8:g.14924560C>T	NCBI36
NG_008273.1:g.5328G>A
NG_008273.2:g.5335G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.-4G>A MANE Select	ENSP00000284268.6:n.-4G>A
ENST00000284268.6:c.-4G>A	ENSP00000284268.6:n.-4G>A
ENST00000505140.1:c.-4G>A	ENSP00000426332.1:n.-4G>A
ENST00000513115.1:n.22G>A
NM_054027.4:c.-4G>A	NP_473368.1:n.-4G>A
XM_011514067.1:c.-4G>A	XP_011512369.1:n.-4G>A
NM_054027.5:c.-4G>A	NP_473368.1:n.-4G>A
NM_054027.6:c.-4G>A MANE Select	NP_473368.1:n.-4G>A