Canonical Allele Identifier: CA1528892441

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741838G= , CM000667.2:g.14741838G=	GRCh38
NC_000005.9:g.14741947G= , CM000667.1:g.14741947G=	GRCh37
NC_000005.8:g.14794947G=	NCBI36
NG_008273.1:g.134941C=
NG_008273.2:g.134948C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1000C= MANE Select	ENSP00000284268.6:p.Leu334=
ENST00000284268.6:c.1000C=	ENSP00000284268.6:p.Leu334=
ENST00000503939.5:n.512C=
ENST00000515517.1:n.234C=
NM_054027.4:c.1000C=	NP_473368.1:p.Leu334=
XM_011514067.1:c.1000C=	XP_011512369.1:p.Leu334=
NM_054027.5:c.1000C=	NP_473368.1:p.Leu334=
XM_017009644.2:c.916C=	XP_016865133.1:p.Leu306=
NM_054027.6:c.1000C= MANE Select	NP_473368.1:p.Leu334=