Canonical Allele Identifier: CA6280886

Gene: ANKK1

Linked Data

• dbSNP Id: rs561438663
• ExAC: 11:113269866 C / T
• gnomAD v2: 11-113269866-C-T
• gnomAD v3: 11-113399144-C-T
• gnomAD v4: 11-113399144-C-T
• MyVariant Identifiers: chr11:g.113269866C>T (hg19) ; chr11:g.113399144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399144C>T , CM000673.2:g.113399144C>T	GRCh38
NC_000011.9:g.113269866C>T , CM000673.1:g.113269866C>T	GRCh37
NC_000011.8:g.112775076C>T	NCBI36
NG_012976.1:g.16354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1175C>T MANE Select	ENSP00000306678.3:p.Thr392Met
ENST00000303941.3:c.1175C>T	ENSP00000306678.3:p.Thr392Met
NM_178510.1:c.1175C>T	NP_848605.1:p.Thr392Met
XM_011542736.1:c.1208C>T	XP_011541038.1:p.Thr403Met
XM_011542737.1:c.1178C>T	XP_011541039.1:p.Thr393Met
XM_011542738.1:c.986C>T	XP_011541040.1:p.Thr329Met
XM_011542736.2:c.1208C>T	XP_011541038.1:p.Thr403Met
XM_011542737.2:c.1178C>T	XP_011541039.1:p.Thr393Met
XM_011542738.2:c.986C>T	XP_011541040.1:p.Thr329Met
XM_017017475.1:c.1205C>T	XP_016872964.1:p.Thr402Met
NM_178510.2:c.1175C>T MANE Select	NP_848605.1:p.Thr392Met