Canonical Allele Identifier: CA414840280

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868025C>A (hg19) ; chrY:g.19706139C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706139C>A , CM000686.2:g.19706139C>A	GRCh38
NC_000024.9:g.21868025C>A , CM000686.1:g.21868025C>A	GRCh37
NC_000024.8:g.20327413C>A	NCBI36
NG_032920.1:g.43801G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4476G>T MANE Select	ENSP00000322408.4:p.Met1492Ile
ENST00000317961.8:c.4476G>T	ENSP00000322408.4:p.Met1492Ile
ENST00000382806.6:c.4305G>T	ENSP00000372256.2:p.Met1435Ile
ENST00000440077.5:c.4353G>T	ENSP00000398543.1:p.Met1451Ile
ENST00000469599.6:n.3227G>T
ENST00000492117.1:n.4521G>T
ENST00000541639.5:c.4569G>T	ENSP00000444293.1:p.Met1523Ile
NM_001146705.1:c.4569G>T	NP_001140177.1:p.Met1523Ile
NM_001146706.1:c.4305G>T	NP_001140178.1:p.Met1435Ile
NM_004653.4:c.4476G>T	NP_004644.2:p.Met1492Ile
XM_005262560.1:c.4341G>T	XP_005262617.1:p.Met1447Ile
XM_005262561.1:c.4245G>T	XP_005262618.1:p.Met1415Ile
XM_011531468.1:c.4398G>T	XP_011529770.1:p.Met1466Ile
XR_430568.2:n.5251G>T
XM_005262560.3:c.4341G>T	XP_005262617.1:p.Met1447Ile
XM_005262561.3:c.4245G>T	XP_005262618.1:p.Met1415Ile
XM_011531468.3:c.4398G>T	XP_011529770.1:p.Met1466Ile
XM_024452495.1:c.2466G>T	XP_024308263.1:p.Met822Ile
XM_024452496.1:c.2232G>T	XP_024308264.1:p.Met744Ile
XR_001756009.2:n.5214G>T
XR_001756010.2:n.5182G>T
XR_001756011.2:n.5079G>T
XR_001756012.2:n.5227G>T
XR_001756013.2:n.4545G>T
XR_002958832.1:n.4799G>T
XR_002958834.1:n.4870G>T
XR_002958835.1:n.4753G>T
XR_002958836.1:n.5404G>T
XR_002958837.1:n.5211G>T
XR_244571.4:n.4731G>T
XR_430568.4:n.5250G>T
NM_001146706.2:c.4305G>T	NP_001140178.1:p.Met1435Ile
NM_004653.5:c.4476G>T MANE Select	NP_004644.2:p.Met1492Ile
NM_001146705.2:c.4569G>T	NP_001140177.1:p.Met1523Ile