Canonical Allele Identifier: CA382645123

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113270111G>T (hg19) ; chr11:g.113399389G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399389G>T , CM000673.2:g.113399389G>T	GRCh38
NC_000011.9:g.113270111G>T , CM000673.1:g.113270111G>T	GRCh37
NC_000011.8:g.112775321G>T	NCBI36
NG_012976.1:g.16599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1420G>T MANE Select	ENSP00000306678.3:p.Glu474Ter
ENST00000303941.3:c.1420G>T	ENSP00000306678.3:p.Glu474Ter
NM_178510.1:c.1420G>T	NP_848605.1:p.Glu474Ter
XM_011542736.1:c.1453G>T	XP_011541038.1:p.Glu485Ter
XM_011542737.1:c.1423G>T	XP_011541039.1:p.Glu475Ter
XM_011542738.1:c.1231G>T	XP_011541040.1:p.Glu411Ter
XM_011542736.2:c.1453G>T	XP_011541038.1:p.Glu485Ter
XM_011542737.2:c.1423G>T	XP_011541039.1:p.Glu475Ter
XM_011542738.2:c.1231G>T	XP_011541040.1:p.Glu411Ter
XM_017017475.1:c.1450G>T	XP_016872964.1:p.Glu484Ter
NM_178510.2:c.1420G>T MANE Select	NP_848605.1:p.Glu474Ter