Canonical Allele Identifier: CA805426575

Gene: ANKH

Linked Data

• dbSNP Id: rs1438281872
• gnomAD v4: 5-14871540-G-A
• MyVariant Identifiers: chr5:g.14871649G>A (hg19) ; chr5:g.14871540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871540G>A , CM000667.2:g.14871540G>A	GRCh38
NC_000005.9:g.14871649G>A , CM000667.1:g.14871649G>A	GRCh37
NC_000005.8:g.14924649G>A	NCBI36
NG_008273.1:g.5239C>T
NG_008273.2:g.5246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-93C>T MANE Select	ENSP00000284268.6:n.-93C>T
ENST00000284268.6:c.-93C>T	ENSP00000284268.6:n.-93C>T
ENST00000505140.1:c.-93C>T	ENSP00000426332.1:n.-93C>T
NM_054027.4:c.-93C>T	NP_473368.1:n.-93C>T
XM_011514067.1:c.-93C>T	XP_011512369.1:n.-93C>T
NM_054027.5:c.-93C>T	NP_473368.1:n.-93C>T
NM_054027.6:c.-93C>T MANE Select	NP_473368.1:n.-93C>T