Canonical Allele Identifier: CA414844437

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869880G>C (hg19) ; chrY:g.19707994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707994G>C , CM000686.2:g.19707994G>C	GRCh38
NC_000024.9:g.21869880G>C , CM000686.1:g.21869880G>C	GRCh37
NC_000024.8:g.20329268G>C	NCBI36
NG_032920.1:g.41946C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3339C>G MANE Select	ENSP00000322408.4:p.Tyr1113Ter
ENST00000317961.8:c.3339C>G	ENSP00000322408.4:p.Tyr1113Ter
ENST00000382806.6:c.3168C>G	ENSP00000372256.2:p.Tyr1056Ter
ENST00000415360.1:c.255C>G	ENSP00000389433.1:p.Tyr85Ter
ENST00000440077.5:c.3216C>G	ENSP00000398543.1:p.Tyr1072Ter
ENST00000469599.6:n.1937C>G
ENST00000492117.1:n.3231C>G
ENST00000541639.5:c.3432C>G	ENSP00000444293.1:p.Tyr1144Ter
NM_001146705.1:c.3432C>G	NP_001140177.1:p.Tyr1144Ter
NM_001146706.1:c.3168C>G	NP_001140178.1:p.Tyr1056Ter
NM_004653.4:c.3339C>G	NP_004644.2:p.Tyr1113Ter
XM_005262560.1:c.3204C>G	XP_005262617.1:p.Tyr1068Ter
XM_005262561.1:c.3108C>G	XP_005262618.1:p.Tyr1036Ter
XM_011531468.1:c.3261C>G	XP_011529770.1:p.Tyr1087Ter
XR_244571.2:n.3627C>G
XR_430568.2:n.3961C>G
XM_005262560.3:c.3204C>G	XP_005262617.1:p.Tyr1068Ter
XM_005262561.3:c.3108C>G	XP_005262618.1:p.Tyr1036Ter
XM_011531468.3:c.3261C>G	XP_011529770.1:p.Tyr1087Ter
XM_024452495.1:c.1329C>G	XP_024308263.1:p.Tyr443Ter
XM_024452496.1:c.1095C>G	XP_024308264.1:p.Tyr365Ter
XR_001756009.2:n.4077C>G
XR_001756010.2:n.4077C>G
XR_001756011.2:n.3942C>G
XR_001756012.2:n.4090C>G
XR_001756013.2:n.3408C>G
XR_002958832.1:n.3509C>G
XR_002958834.1:n.3733C>G
XR_002958835.1:n.3616C>G
XR_002958836.1:n.4299C>G
XR_002958837.1:n.4106C>G
XR_244571.4:n.3626C>G
XR_430568.4:n.3960C>G
NM_001146706.2:c.3168C>G	NP_001140178.1:p.Tyr1056Ter
NM_004653.5:c.3339C>G MANE Select	NP_004644.2:p.Tyr1113Ter
NM_001146705.2:c.3432C>G	NP_001140177.1:p.Tyr1144Ter