Canonical Allele Identifier: CA382647506

Gene: ANKK1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113400106G>C , CM000673.2:g.113400106G>C	GRCh38
NC_000011.9:g.113270828G>C , CM000673.1:g.113270828G>C	GRCh37
NC_000011.8:g.112776038G>C	NCBI36
NG_012976.1:g.17316G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_178510.2:c.2137G>C MANE Select	NP_848605.1:p.Glu713Gln
ENST00000303941.4:c.2137G>C MANE Select	ENSP00000306678.3:p.Glu713Gln
NM_178510.1:c.2137G>C	NP_848605.1:p.Glu713Gln
ENST00000303941.3:c.2137G>C	ENSP00000306678.3:p.Glu713Gln
XM_011542736.1:c.2170G>C	XP_011541038.1:p.Glu724Gln
XM_011542736.2:c.2170G>C	XP_011541038.1:p.Glu724Gln
XM_011542737.1:c.2140G>C	XP_011541039.1:p.Glu714Gln
XM_011542737.2:c.2140G>C	XP_011541039.1:p.Glu714Gln
XM_011542738.1:c.1948G>C	XP_011541040.1:p.Glu650Gln
XM_011542738.2:c.1948G>C	XP_011541040.1:p.Glu650Gln
XM_017017475.1:c.2167G>C	XP_016872964.1:p.Glu723Gln