Canonical Allele Identifier: CA3209208

Gene: ANKH

Linked Data

• ClinVar Variation Id: 1618381
• ClinVar RCV Id: RCV002082035
• dbSNP Id: rs755378187
• ExAC: 5:14769313 A / G
• gnomAD v2: 5-14769313-A-G
• gnomAD v4: 5-14769204-A-G
• MyVariant Identifiers: chr5:g.14769313A>G (hg19) ; chr5:g.14769204A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769204A>G , CM000667.2:g.14769204A>G	GRCh38
NC_000005.9:g.14769313A>G , CM000667.1:g.14769313A>G	GRCh37
NC_000005.8:g.14822313A>G	NCBI36
NG_008273.1:g.107575T>C
NG_008273.2:g.107582T>C

Transcript Alleles

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