Canonical Allele Identifier: CA414841080

Gene: KDM5D

Linked Data

• gnomAD v3: Y-19732122-G-C
• gnomAD v4: Y-19732122-G-C
• MyVariant Identifiers: chrY:g.21894008G>C (hg19) ; chrY:g.19732122G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19732122G>C , CM000686.2:g.19732122G>C	GRCh38
NC_000024.9:g.21894008G>C , CM000686.1:g.21894008G>C	GRCh37
NC_000024.8:g.20353396G>C	NCBI36
NG_032920.1:g.17818C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.1136C>G MANE Select	ENSP00000322408.4:p.Thr379Ser
ENST00000317961.8:c.1136C>G	ENSP00000322408.4:p.Thr379Ser
ENST00000382806.6:c.965C>G	ENSP00000372256.2:p.Thr322Ser
ENST00000440077.5:c.1013C>G	ENSP00000398543.1:p.Thr338Ser
ENST00000447300.1:c.1001C>G	ENSP00000416377.1:p.Thr334Ser
ENST00000541639.5:c.1136C>G	ENSP00000444293.1:p.Thr379Ser
NM_001146705.1:c.1136C>G	NP_001140177.1:p.Thr379Ser
NM_001146706.1:c.965C>G	NP_001140178.1:p.Thr322Ser
NM_004653.4:c.1136C>G	NP_004644.2:p.Thr379Ser
XM_005262560.1:c.1001C>G	XP_005262617.1:p.Thr334Ser
XM_005262561.1:c.1136C>G	XP_005262618.1:p.Thr379Ser
XM_005262562.2:c.1136C>G	XP_005262619.1:p.Thr379Ser
XM_011531468.1:c.1136C>G	XP_011529770.1:p.Thr379Ser
XR_244571.2:n.1424C>G
XR_430568.2:n.1424C>G
XR_938609.1:n.1424C>G
XR_938610.1:n.1424C>G
XM_005262560.3:c.1001C>G	XP_005262617.1:p.Thr334Ser
XM_005262561.3:c.1136C>G	XP_005262618.1:p.Thr379Ser
XM_011531468.3:c.1136C>G	XP_011529770.1:p.Thr379Ser
XM_024452495.1:c.-982C>G	XP_024308263.1:n.-982C>G
XR_001756009.2:n.1423C>G
XR_001756010.2:n.1423C>G
XR_001756011.2:n.1288C>G
XR_001756012.2:n.1423C>G
XR_001756013.2:n.1423C>G
XR_002958832.1:n.1423C>G
XR_002958833.1:n.1423C>G
XR_002958834.1:n.1423C>G
XR_002958835.1:n.1423C>G
XR_002958836.1:n.1423C>G
XR_002958837.1:n.1423C>G
XR_244571.4:n.1423C>G
XR_430568.4:n.1423C>G
NM_001146706.2:c.965C>G	NP_001140178.1:p.Thr322Ser
NM_004653.5:c.1136C>G MANE Select	NP_004644.2:p.Thr379Ser
NM_001146705.2:c.1136C>G	NP_001140177.1:p.Thr379Ser