Canonical Allele Identifier: CA367192717

Gene: NT5C3A

Linked Data

• MyVariant Identifiers: chr7:g.33060933C>G (hg19) ; chr7:g.33021321C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33021321C>G , CM000669.2:g.33021321C>G	GRCh38
NC_000007.13:g.33060933C>G , CM000669.1:g.33060933C>G	GRCh37
NC_000007.12:g.33027458C>G	NCBI36
NG_015800.1:g.46477G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409467.6:c.253G>C	ENSP00000387166.1:p.Val85Leu
ENST00000610140.7:c.391G>C MANE Select	ENSP00000476480.2:p.Val131Leu
ENST00000643244.1:c.289G>C	ENSP00000496364.1:p.Val97Leu
ENST00000242210.11:c.406G>C	ENSP00000242210.7:p.Val136Leu
ENST00000381626.6:c.253G>C	ENSP00000371039.2:p.Val85Leu
ENST00000396152.6:c.289G>C	ENSP00000379456.2:p.Val97Leu
ENST00000405342.5:c.289G>C	ENSP00000385261.1:p.Val97Leu
ENST00000409467.5:c.253G>C	ENSP00000387166.1:p.Val85Leu
ENST00000409787.4:c.289G>C	ENSP00000387205.1:p.Val97Leu
ENST00000456458.5:c.*296G>C	ENSP00000389676.2:n.*296G>C
ENST00000610140.5:c.391G>C	ENSP00000476480.1:p.Val131Leu
ENST00000620705.4:c.406G>C	ENSP00000484415.1:p.Val136Leu
NM_001002009.2:c.289G>C	NP_001002009.1:p.Val97Leu
NM_001002010.2:c.406G>C	NP_001002010.1:p.Val136Leu
NM_001166118.2:c.253G>C	NP_001159590.1:p.Val85Leu
NM_016489.12:c.289G>C	NP_057573.2:p.Val97Leu
XM_011515409.1:c.253G>C	XP_011513711.1:p.Val85Leu
NM_001002010.3:c.391G>C	NP_001002010.2:p.Val131Leu
NM_001356996.1:c.253G>C	NP_001343925.1:p.Val85Leu
NM_001002009.3:c.289G>C	NP_001002009.1:p.Val97Leu
NM_001002010.5:c.391G>C MANE Select	NP_001002010.2:p.Val131Leu
NM_001166118.3:c.253G>C	NP_001159590.1:p.Val85Leu
NM_001356996.2:c.253G>C	NP_001343925.1:p.Val85Leu
NM_001374335.1:c.292G>C	NP_001361264.1:p.Val98Leu
NM_001374336.1:c.253G>C	NP_001361265.1:p.Val85Leu
NM_001374337.1:c.253G>C	NP_001361266.1:p.Val85Leu
NM_001374338.1:c.391G>C	NP_001361267.1:p.Val131Leu
NM_001374339.1:c.190G>C	NP_001361268.1:p.Val64Leu
NM_016489.13:c.289G>C	NP_057573.2:p.Val97Leu
NM_001356996.3:c.253G>C	NP_001343925.1:p.Val85Leu
NM_016489.14:c.289G>C	NP_057573.2:p.Val97Leu