Canonical Allele Identifier: CA382644893

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113270040A>T (hg19) ; chr11:g.113399318A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399318A>T , CM000673.2:g.113399318A>T	GRCh38
NC_000011.9:g.113270040A>T , CM000673.1:g.113270040A>T	GRCh37
NC_000011.8:g.112775250A>T	NCBI36
NG_012976.1:g.16528A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1349A>T MANE Select	ENSP00000306678.3:p.His450Leu
ENST00000303941.3:c.1349A>T	ENSP00000306678.3:p.His450Leu
NM_178510.1:c.1349A>T	NP_848605.1:p.His450Leu
XM_011542736.1:c.1382A>T	XP_011541038.1:p.His461Leu
XM_011542737.1:c.1352A>T	XP_011541039.1:p.His451Leu
XM_011542738.1:c.1160A>T	XP_011541040.1:p.His387Leu
XM_011542736.2:c.1382A>T	XP_011541038.1:p.His461Leu
XM_011542737.2:c.1352A>T	XP_011541039.1:p.His451Leu
XM_011542738.2:c.1160A>T	XP_011541040.1:p.His387Leu
XM_017017475.1:c.1379A>T	XP_016872964.1:p.His460Leu
NM_178510.2:c.1349A>T MANE Select	NP_848605.1:p.His450Leu