Canonical Allele Identifier: CA558015996

Gene: ANKH

Linked Data

• dbSNP Id: rs928164677
• gnomAD v2: 5-14871456-C-A
• gnomAD v4: 5-14871347-C-A
• MyVariant Identifiers: chr5:g.14871456C>A (hg19) ; chr5:g.14871347C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871347C>A , CM000667.2:g.14871347C>A	GRCh38
NC_000005.9:g.14871456C>A , CM000667.1:g.14871456C>A	GRCh37
NC_000005.8:g.14924456C>A	NCBI36
NG_008273.1:g.5432G>T
NG_008273.2:g.5439G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.96+5G>T MANE Select	ENSP00000284268.6:n.96+5G>T
ENST00000284268.6:c.96+5G>T	ENSP00000284268.6:n.96+5G>T
ENST00000505140.1:c.101G>T	ENSP00000426332.1:p.Ser34Ile
ENST00000513115.1:n.121+5G>T
NM_054027.4:c.96+5G>T	NP_473368.1:n.96+5G>T
XM_011514067.1:c.96+5G>T	XP_011512369.1:n.96+5G>T
NM_054027.5:c.96+5G>T	NP_473368.1:n.96+5G>T
NM_054027.6:c.96+5G>T MANE Select	NP_473368.1:n.96+5G>T