Canonical Allele Identifier: CA1749702
Community Standard Title: NM_018433.6(KDM3A):c.2512+19T>C
Gene: KDM3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86480381T>C , CM000664.2:g.86480381T>C GRCh38
NC_000002.11:g.86707504T>C , CM000664.1:g.86707504T>C GRCh37
NC_000002.10:g.86561015T>C NCBI36
NG_047167.1:g.44735T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018433.6:c.2512+19T>C MANE Select NP_060903.2:n.2512+19T>C
ENST00000312912.10:c.2512+19T>C MANE Select ENSP00000323659.5:n.2512+19T>C
NM_001146688.1:c.2512+19T>C NP_001140160.1:n.2512+19T>C
NM_001146688.2:c.2512+19T>C NP_001140160.1:n.2512+19T>C
NM_018433.5:c.2512+19T>C NP_060903.2:n.2512+19T>C
ENST00000312912.9:c.2512+19T>C ENSP00000323659.5:n.2512+19T>C
ENST00000409064.5:c.2512+19T>C ENSP00000386516.1:n.2512+19T>C
ENST00000409556.5:c.2512+19T>C ENSP00000386660.1:n.2512+19T>C
ENST00000441719.5:c.*1947+19T>C ENSP00000394691.1:n.*1947+19T>C
ENST00000542128.5:c.2512+19T>C ENSP00000438324.2:n.2512+19T>C
XM_006712051.2:c.532+19T>C XP_006712114.1:n.532+19T>C
XM_006712051.4:c.532+19T>C XP_006712114.1:n.532+19T>C
XM_011532984.1:c.2557+19T>C XP_011531286.1:n.2557+19T>C
XM_011532985.1:c.2557+19T>C XP_011531287.1:n.2557+19T>C
XM_011532986.1:c.1702+19T>C XP_011531288.1:n.1702+19T>C
XM_017004494.1:c.1657+19T>C XP_016859983.1:n.1657+19T>C
XM_024452994.1:c.2512+19T>C XP_024308762.1:n.2512+19T>C
XM_024452995.1:c.2512+19T>C XP_024308763.1:n.2512+19T>C
XM_024452996.1:c.1657+19T>C XP_024308764.1:n.1657+19T>C
XM_024452997.1:c.532+19T>C XP_024308765.1:n.532+19T>C