Canonical Allele Identifier: CA414843894

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869531C>G (hg19) ; chrY:g.19707645C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707645C>G , CM000686.2:g.19707645C>G	GRCh38
NC_000024.9:g.21869531C>G , CM000686.1:g.21869531C>G	GRCh37
NC_000024.8:g.20328919C>G	NCBI36
NG_032920.1:g.42295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3501G>C MANE Select	ENSP00000322408.4:p.Met1167Ile
ENST00000317961.8:c.3501G>C	ENSP00000322408.4:p.Met1167Ile
ENST00000382806.6:c.3330G>C	ENSP00000372256.2:p.Met1110Ile
ENST00000415360.1:c.417G>C	ENSP00000389433.1:p.Met139Ile
ENST00000440077.5:c.3378G>C	ENSP00000398543.1:p.Met1126Ile
ENST00000469599.6:n.2099G>C
ENST00000492117.1:n.3393G>C
ENST00000541639.5:c.3594G>C	ENSP00000444293.1:p.Met1198Ile
NM_001146705.1:c.3594G>C	NP_001140177.1:p.Met1198Ile
NM_001146706.1:c.3330G>C	NP_001140178.1:p.Met1110Ile
NM_004653.4:c.3501G>C	NP_004644.2:p.Met1167Ile
XM_005262560.1:c.3366G>C	XP_005262617.1:p.Met1122Ile
XM_005262561.1:c.3270G>C	XP_005262618.1:p.Met1090Ile
XM_011531468.1:c.3423G>C	XP_011529770.1:p.Met1141Ile
XR_244571.2:n.3789G>C
XR_430568.2:n.4123G>C
XM_005262560.3:c.3366G>C	XP_005262617.1:p.Met1122Ile
XM_005262561.3:c.3270G>C	XP_005262618.1:p.Met1090Ile
XM_011531468.3:c.3423G>C	XP_011529770.1:p.Met1141Ile
XM_024452495.1:c.1491G>C	XP_024308263.1:p.Met497Ile
XM_024452496.1:c.1257G>C	XP_024308264.1:p.Met419Ile
XR_001756009.2:n.4239G>C
XR_001756010.2:n.4239G>C
XR_001756011.2:n.4104G>C
XR_001756012.2:n.4252G>C
XR_001756013.2:n.3570G>C
XR_002958832.1:n.3671G>C
XR_002958834.1:n.3895G>C
XR_002958835.1:n.3778G>C
XR_002958836.1:n.4461G>C
XR_002958837.1:n.4268G>C
XR_244571.4:n.3788G>C
XR_430568.4:n.4122G>C
NM_001146706.2:c.3330G>C	NP_001140178.1:p.Met1110Ile
NM_004653.5:c.3501G>C MANE Select	NP_004644.2:p.Met1167Ile
NM_001146705.2:c.3594G>C	NP_001140177.1:p.Met1198Ile