Canonical Allele Identifier: CA114720366

Gene: ANKH

Linked Data

• dbSNP Id: rs967304340
• gnomAD v3: 5-14716940-A-G
• gnomAD v4: 5-14716940-A-G
• MyVariant Identifiers: chr5:g.14717049A>G (hg19) ; chr5:g.14716940A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716940A>G , CM000667.2:g.14716940A>G	GRCh38
NC_000005.9:g.14717049A>G , CM000667.1:g.14717049A>G	GRCh37
NC_000005.8:g.14770049A>G	NCBI36
NG_008273.1:g.159839T>C
NG_008273.2:g.159846T>C
NG_051625.1:g.61147A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-105T>C MANE Select	ENSP00000284268.6:n.1012-105T>C
ENST00000284268.6:c.1012-105T>C	ENSP00000284268.6:n.1012-105T>C
ENST00000502585.1:n.149T>C
NM_054027.4:c.1012-105T>C	NP_473368.1:n.1012-105T>C
NM_054027.5:c.1012-105T>C	NP_473368.1:n.1012-105T>C
XM_017009644.2:c.928-105T>C	XP_016865133.1:n.928-105T>C
NM_054027.6:c.1012-105T>C MANE Select	NP_473368.1:n.1012-105T>C