Canonical Allele Identifier: CA10574753

Gene: KDM5D

Linked Data

• dbSNP Id: rs752773051
• ExAC: Y:21869679 G / A
• gnomAD v2: Y-21869679-G-A
• MyVariant Identifiers: chrY:g.21869679G>A (hg19) ; chrY:g.19707793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707793G>A , CM000686.2:g.19707793G>A	GRCh38
NC_000024.9:g.21869679G>A , CM000686.1:g.21869679G>A	GRCh37
NC_000024.8:g.20329067G>A	NCBI36
NG_032920.1:g.42147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3400-47C>T MANE Select	ENSP00000322408.4:n.3400-47C>T
ENST00000317961.8:c.3400-47C>T	ENSP00000322408.4:n.3400-47C>T
ENST00000382806.6:c.3229-47C>T	ENSP00000372256.2:n.3229-47C>T
ENST00000415360.1:c.316-47C>T	ENSP00000389433.1:n.316-47C>T
ENST00000440077.5:c.3277-47C>T	ENSP00000398543.1:n.3277-47C>T
ENST00000469599.6:n.1998-47C>T
ENST00000492117.1:n.3292-47C>T
ENST00000541639.5:c.3493-47C>T	ENSP00000444293.1:n.3493-47C>T
NM_001146705.1:c.3493-47C>T	NP_001140177.1:n.3493-47C>T
NM_001146706.1:c.3229-47C>T	NP_001140178.1:n.3229-47C>T
NM_004653.4:c.3400-47C>T	NP_004644.2:n.3400-47C>T
XM_005262560.1:c.3265-47C>T	XP_005262617.1:n.3265-47C>T
XM_005262561.1:c.3169-47C>T	XP_005262618.1:n.3169-47C>T
XM_011531468.1:c.3322-47C>T	XP_011529770.1:n.3322-47C>T
XR_244571.2:n.3688-47C>T
XR_430568.2:n.4022-47C>T
XM_005262560.3:c.3265-47C>T	XP_005262617.1:n.3265-47C>T
XM_005262561.3:c.3169-47C>T	XP_005262618.1:n.3169-47C>T
XM_011531468.3:c.3322-47C>T	XP_011529770.1:n.3322-47C>T
XM_024452495.1:c.1390-47C>T	XP_024308263.1:n.1390-47C>T
XM_024452496.1:c.1156-47C>T	XP_024308264.1:n.1156-47C>T
XR_001756009.2:n.4138-47C>T
XR_001756010.2:n.4138-47C>T
XR_001756011.2:n.4003-47C>T
XR_001756012.2:n.4151-47C>T
XR_001756013.2:n.3469-47C>T
XR_002958832.1:n.3570-47C>T
XR_002958834.1:n.3794-47C>T
XR_002958835.1:n.3677-47C>T
XR_002958836.1:n.4360-47C>T
XR_002958837.1:n.4167-47C>T
XR_244571.4:n.3687-47C>T
XR_430568.4:n.4021-47C>T
NM_001146706.2:c.3229-47C>T	NP_001140178.1:n.3229-47C>T
NM_004653.5:c.3400-47C>T MANE Select	NP_004644.2:n.3400-47C>T
NM_001146705.2:c.3493-47C>T	NP_001140177.1:n.3493-47C>T