Canonical Allele Identifier: CA6280929

Gene: ANKK1

Linked Data

• dbSNP Id: rs765529414
• ExAC: 11:113270039 C / T
• gnomAD v2: 11-113270039-C-T
• gnomAD v3: 11-113399317-C-T
• gnomAD v4: 11-113399317-C-T
• MyVariant Identifiers: chr11:g.113270039C>T (hg19) ; chr11:g.113399317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399317C>T , CM000673.2:g.113399317C>T	GRCh38
NC_000011.9:g.113270039C>T , CM000673.1:g.113270039C>T	GRCh37
NC_000011.8:g.112775249C>T	NCBI36
NG_012976.1:g.16527C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1348C>T MANE Select	ENSP00000306678.3:p.His450Tyr
ENST00000303941.3:c.1348C>T	ENSP00000306678.3:p.His450Tyr
NM_178510.1:c.1348C>T	NP_848605.1:p.His450Tyr
XM_011542736.1:c.1381C>T	XP_011541038.1:p.His461Tyr
XM_011542737.1:c.1351C>T	XP_011541039.1:p.His451Tyr
XM_011542738.1:c.1159C>T	XP_011541040.1:p.His387Tyr
XM_011542736.2:c.1381C>T	XP_011541038.1:p.His461Tyr
XM_011542737.2:c.1351C>T	XP_011541039.1:p.His451Tyr
XM_011542738.2:c.1159C>T	XP_011541040.1:p.His387Tyr
XM_017017475.1:c.1378C>T	XP_016872964.1:p.His460Tyr
NM_178510.2:c.1348C>T MANE Select	NP_848605.1:p.His450Tyr