Canonical Allele Identifier: CA645292572

Gene: KDM5D

Linked Data

• dbSNP Id: rs1377971779
• gnomAD v2: Y-21869962-G-C
• MyVariant Identifiers: chrY:g.21869962G>C (hg19) ; chrY:g.19708076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708076G>C , CM000686.2:g.19708076G>C	GRCh38
NC_000024.9:g.21869962G>C , CM000686.1:g.21869962G>C	GRCh37
NC_000024.8:g.20329350G>C	NCBI36
NG_032920.1:g.41864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3262-5C>G MANE Select	ENSP00000322408.4:n.3262-5C>G
ENST00000317961.8:c.3262-5C>G	ENSP00000322408.4:n.3262-5C>G
ENST00000382806.6:c.3091-5C>G	ENSP00000372256.2:n.3091-5C>G
ENST00000415360.1:c.178-5C>G	ENSP00000389433.1:n.178-5C>G
ENST00000440077.5:c.3139-5C>G	ENSP00000398543.1:n.3139-5C>G
ENST00000469599.6:n.1860-5C>G
ENST00000492117.1:n.3154-5C>G
ENST00000541639.5:c.3355-5C>G	ENSP00000444293.1:n.3355-5C>G
NM_001146705.1:c.3355-5C>G	NP_001140177.1:n.3355-5C>G
NM_001146706.1:c.3091-5C>G	NP_001140178.1:n.3091-5C>G
NM_004653.4:c.3262-5C>G	NP_004644.2:n.3262-5C>G
XM_005262560.1:c.3127-5C>G	XP_005262617.1:n.3127-5C>G
XM_005262561.1:c.3031-5C>G	XP_005262618.1:n.3031-5C>G
XM_011531468.1:c.3184-5C>G	XP_011529770.1:n.3184-5C>G
XR_244571.2:n.3550-5C>G
XR_430568.2:n.3884-5C>G
XM_005262560.3:c.3127-5C>G	XP_005262617.1:n.3127-5C>G
XM_005262561.3:c.3031-5C>G	XP_005262618.1:n.3031-5C>G
XM_011531468.3:c.3184-5C>G	XP_011529770.1:n.3184-5C>G
XM_024452495.1:c.1252-5C>G	XP_024308263.1:n.1252-5C>G
XM_024452496.1:c.1018-5C>G	XP_024308264.1:n.1018-5C>G
XR_001756009.2:n.4000-5C>G
XR_001756010.2:n.4000-5C>G
XR_001756011.2:n.3865-5C>G
XR_001756012.2:n.4013-5C>G
XR_001756013.2:n.3331-5C>G
XR_002958832.1:n.3432-5C>G
XR_002958834.1:n.3656-5C>G
XR_002958835.1:n.3539-5C>G
XR_002958836.1:n.4222-5C>G
XR_002958837.1:n.4029-5C>G
XR_244571.4:n.3549-5C>G
XR_430568.4:n.3883-5C>G
NM_001146706.2:c.3091-5C>G	NP_001140178.1:n.3091-5C>G
NM_004653.5:c.3262-5C>G MANE Select	NP_004644.2:n.3262-5C>G
NM_001146705.2:c.3355-5C>G	NP_001140177.1:n.3355-5C>G