Canonical Allele Identifier: CA488457279
Gene: ADSS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.105207462T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104741125T>G , CM000676.2:g.104741125T>G GRCh38
NC_000014.8:g.105207462T>G , CM000676.1:g.105207462T>G GRCh37
NC_000014.7:g.104278507T>G NCBI36
NG_051175.1:g.21929T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710323.1:c.675T>G ENSP00000518203.1:p.Ala225=
ENST00000330877.7:c.675T>G MANE Select ENSP00000331260.2:p.Ala225=
ENST00000330877.6:c.675T>G ENSP00000331260.2:p.Ala225=
ENST00000332972.9:c.804T>G ENSP00000333019.5:p.Ala268=
ENST00000553540.5:c.787T>G ENSP00000450759.1:n.787T>G
ENST00000555486.5:c.740T>G ENSP00000473778.1:n.740T>G
ENST00000557582.5:n.1596T>G
NM_152328.3:c.675T>G NP_689541.1:p.Ala225=
NM_199165.1:c.804T>G NP_954634.1:p.Ala268=
XM_006720026.2:c.678T>G XP_006720089.1:p.Ala226=
XM_011536412.1:c.807T>G XP_011534714.1:p.Ala269=
XM_011536413.1:c.492T>G XP_011534715.1:p.Ala164=
XM_011536414.1:c.489T>G XP_011534716.1:p.Ala163=
XM_011536415.1:c.60T>G XP_011534717.1:p.Ala20=
NM_001320424.1:c.60T>G NP_001307353.1:p.Ala20=
NM_152328.4:c.675T>G NP_689541.1:p.Ala225=
NM_199165.2:c.804T>G NP_954634.1:p.Ala268=
XM_006720026.3:c.678T>G XP_006720089.1:p.Ala226=
XM_011536412.2:c.807T>G XP_011534714.1:p.Ala269=
NM_152328.5:c.675T>G MANE Select NP_689541.1:p.Ala225=