Canonical Allele Identifier: CA4120922
Gene: INTS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1503178T>C , CM000669.2:g.1503178T>C GRCh38
NC_000007.13:g.1542814T>C , CM000669.1:g.1542814T>C GRCh37
NC_000007.12:g.1509340T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000404767.8:c.72A>G MANE Select ENSP00000385722.3:p.Pro24=
ENST00000404767.7:c.72A>G ENSP00000385722.3:p.Pro24=
NM_001080453.2:c.72A>G NP_001073922.2:p.Pro24=
XM_011515260.1:c.72A>G XP_011513562.1:p.Pro24=
XM_011515261.1:c.72A>G XP_011513563.1:p.Pro24=
XM_011515262.1:c.72A>G XP_011513564.1:p.Pro24=
XM_011515262.2:c.72A>G XP_011513564.1:p.Pro24=
XM_017011959.1:c.72A>G XP_016867448.1:p.Pro24=
XM_017011960.1:c.72A>G XP_016867449.1:p.Pro24=
XR_001744624.1:n.173A>G
NM_001080453.3:c.72A>G MANE Select NP_001073922.2:p.Pro24=