Canonical Allele Identifier: CA114720457

Gene: ANKH

Linked Data

• dbSNP Id: rs924133867
• gnomAD v2: 5-14717128-C-A
• gnomAD v3: 5-14717019-C-A
• gnomAD v4: 5-14717019-C-A
• MyVariant Identifiers: chr5:g.14717128C>A (hg19) ; chr5:g.14717019C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14717019C>A , CM000667.2:g.14717019C>A	GRCh38
NC_000005.9:g.14717128C>A , CM000667.1:g.14717128C>A	GRCh37
NC_000005.8:g.14770128C>A	NCBI36
NG_008273.1:g.159760G>T
NG_008273.2:g.159767G>T
NG_051625.1:g.61226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-184G>T MANE Select	ENSP00000284268.6:n.1012-184G>T
ENST00000284268.6:c.1012-184G>T	ENSP00000284268.6:n.1012-184G>T
ENST00000502585.1:n.70G>T
NM_054027.4:c.1012-184G>T	NP_473368.1:n.1012-184G>T
NM_054027.5:c.1012-184G>T	NP_473368.1:n.1012-184G>T
XM_017009644.2:c.928-184G>T	XP_016865133.1:n.928-184G>T
NM_054027.6:c.1012-184G>T MANE Select	NP_473368.1:n.1012-184G>T