Canonical Allele Identifier: CA558016059

Gene: ANKH

Linked Data

• dbSNP Id: rs1435971301
• gnomAD v2: 5-14871710-C-T
• gnomAD v3: 5-14871601-C-T
• gnomAD v4: 5-14871601-C-T
• MyVariant Identifiers: chr5:g.14871710C>T (hg19) ; chr5:g.14871601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871601C>T , CM000667.2:g.14871601C>T	GRCh38
NC_000005.9:g.14871710C>T , CM000667.1:g.14871710C>T	GRCh37
NC_000005.8:g.14924710C>T	NCBI36
NG_008273.1:g.5178G>A
NG_008273.2:g.5185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-154G>A MANE Select	ENSP00000284268.6:n.-154G>A
ENST00000284268.6:c.-154G>A	ENSP00000284268.6:n.-154G>A
ENST00000505140.1:c.-154G>A	ENSP00000426332.1:n.-154G>A
NM_054027.4:c.-154G>A	NP_473368.1:n.-154G>A
XM_011514067.1:c.-154G>A	XP_011512369.1:n.-154G>A
NM_054027.5:c.-154G>A	NP_473368.1:n.-154G>A
NM_054027.6:c.-154G>A MANE Select	NP_473368.1:n.-154G>A