Canonical Allele Identifier: CA557886708

Gene: ANKH

Linked Data

• dbSNP Id: rs752929234
• gnomAD v2: 5-14769319-A-T
• gnomAD v4: 5-14769210-A-T
• MyVariant Identifiers: chr5:g.14769319A>T (hg19) ; chr5:g.14769210A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769210A>T , CM000667.2:g.14769210A>T	GRCh38
NC_000005.9:g.14769319A>T , CM000667.1:g.14769319A>T	GRCh37
NC_000005.8:g.14822319A>T	NCBI36
NG_008273.1:g.107569T>A
NG_008273.2:g.107576T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.97-19T>A MANE Select	ENSP00000284268.6:n.97-19T>A
ENST00000284268.6:c.97-19T>A	ENSP00000284268.6:n.97-19T>A
ENST00000503389.1:n.103-19T>A
ENST00000513115.1:n.122-19T>A
NM_054027.4:c.97-19T>A	NP_473368.1:n.97-19T>A
XM_011514067.1:c.97-19T>A	XP_011512369.1:n.97-19T>A
NM_054027.5:c.97-19T>A	NP_473368.1:n.97-19T>A
XM_017009644.2:c.13-19T>A	XP_016865133.1:n.13-19T>A
NM_054027.6:c.97-19T>A MANE Select	NP_473368.1:n.97-19T>A