Canonical Allele Identifier: CA414843161

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869329T>G (hg19) ; chrY:g.19707443T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707443T>G , CM000686.2:g.19707443T>G	GRCh38
NC_000024.9:g.21869329T>G , CM000686.1:g.21869329T>G	GRCh37
NC_000024.8:g.20328717T>G	NCBI36
NG_032920.1:g.42497A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3703A>C MANE Select	ENSP00000322408.4:p.Met1235Leu
ENST00000317961.8:c.3703A>C	ENSP00000322408.4:p.Met1235Leu
ENST00000382806.6:c.3532A>C	ENSP00000372256.2:p.Met1178Leu
ENST00000415360.1:c.619A>C	ENSP00000389433.1:p.Met207Leu
ENST00000440077.5:c.3580A>C	ENSP00000398543.1:p.Met1194Leu
ENST00000469599.6:n.2301A>C
ENST00000492117.1:n.3595A>C
ENST00000541639.5:c.3796A>C	ENSP00000444293.1:p.Met1266Leu
NM_001146705.1:c.3796A>C	NP_001140177.1:p.Met1266Leu
NM_001146706.1:c.3532A>C	NP_001140178.1:p.Met1178Leu
NM_004653.4:c.3703A>C	NP_004644.2:p.Met1235Leu
XM_005262560.1:c.3568A>C	XP_005262617.1:p.Met1190Leu
XM_005262561.1:c.3472A>C	XP_005262618.1:p.Met1158Leu
XM_011531468.1:c.3625A>C	XP_011529770.1:p.Met1209Leu
XR_244571.2:n.3991A>C
XR_430568.2:n.4325A>C
XM_005262560.3:c.3568A>C	XP_005262617.1:p.Met1190Leu
XM_005262561.3:c.3472A>C	XP_005262618.1:p.Met1158Leu
XM_011531468.3:c.3625A>C	XP_011529770.1:p.Met1209Leu
XM_024452495.1:c.1693A>C	XP_024308263.1:p.Met565Leu
XM_024452496.1:c.1459A>C	XP_024308264.1:p.Met487Leu
XR_001756009.2:n.4441A>C
XR_001756010.2:n.4441A>C
XR_001756011.2:n.4306A>C
XR_001756012.2:n.4454A>C
XR_001756013.2:n.3772A>C
XR_002958832.1:n.3873A>C
XR_002958834.1:n.4097A>C
XR_002958835.1:n.3980A>C
XR_002958836.1:n.4663A>C
XR_002958837.1:n.4470A>C
XR_244571.4:n.3990A>C
XR_430568.4:n.4324A>C
NM_001146706.2:c.3532A>C	NP_001140178.1:p.Met1178Leu
NM_004653.5:c.3703A>C MANE Select	NP_004644.2:p.Met1235Leu
NM_001146705.2:c.3796A>C	NP_001140177.1:p.Met1266Leu