Canonical Allele Identifier: CA391240591

Gene: ADSS1

Linked Data

• dbSNP Id: rs1482332121
• gnomAD v2: 14-105207514-C-G
• gnomAD v4: 14-104741177-C-G
• MyVariant Identifiers: chr14:g.105207514C>G (hg19) ; chr14:g.104741177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741177C>G , CM000676.2:g.104741177C>G	GRCh38
NC_000014.8:g.105207514C>G , CM000676.1:g.105207514C>G	GRCh37
NC_000014.7:g.104278559C>G	NCBI36
NG_051175.1:g.21981C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.727C>G	ENSP00000518203.1:p.Leu243Val
ENST00000330877.7:c.727C>G MANE Select	ENSP00000331260.2:p.Leu243Val
ENST00000330877.6:c.727C>G	ENSP00000331260.2:p.Leu243Val
ENST00000332972.9:c.856C>G	ENSP00000333019.5:p.Leu286Val
ENST00000553540.5:c.839C>G	ENSP00000450759.1:n.839C>G
ENST00000555486.5:c.792C>G	ENSP00000473778.1:n.792C>G
ENST00000557582.5:n.1648C>G
NM_152328.3:c.727C>G	NP_689541.1:p.Leu243Val
NM_199165.1:c.856C>G	NP_954634.1:p.Leu286Val
XM_006720026.2:c.730C>G	XP_006720089.1:p.Leu244Val
XM_011536412.1:c.859C>G	XP_011534714.1:p.Leu287Val
XM_011536413.1:c.544C>G	XP_011534715.1:p.Leu182Val
XM_011536414.1:c.541C>G	XP_011534716.1:p.Leu181Val
XM_011536415.1:c.112C>G	XP_011534717.1:p.Leu38Val
NM_001320424.1:c.112C>G	NP_001307353.1:p.Leu38Val
NM_152328.4:c.727C>G	NP_689541.1:p.Leu243Val
NM_199165.2:c.856C>G	NP_954634.1:p.Leu286Val
XM_006720026.3:c.730C>G	XP_006720089.1:p.Leu244Val
XM_011536412.2:c.859C>G	XP_011534714.1:p.Leu287Val
XR_001750917.1:n.532G>C
NM_152328.5:c.727C>G MANE Select	NP_689541.1:p.Leu243Val