Canonical Allele Identifier: CA361639247

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147486681G>C (hg19) ; chr5:g.148107118G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107118G>C , CM000667.2:g.148107118G>C	GRCh38
NC_000005.9:g.147486681G>C , CM000667.1:g.147486681G>C	GRCh37
NC_000005.8:g.147466874G>C	NCBI36
NG_009633.1:g.48147G>C , LRG_110:g.48147G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1170G>C
ENST00000256084.8:c.1561G>C MANE Select	ENSP00000256084.7:p.Asp521His
ENST00000256084.7:c.1561G>C	ENSP00000256084.7:p.Asp521His
ENST00000359874.7:c.1561G>C	ENSP00000352936.3:p.Asp521His
ENST00000398454.5:c.1561G>C	ENSP00000381472.1:p.Asp521His
ENST00000507988.5:n.1725G>C
ENST00000508733.5:c.1504G>C	ENSP00000421519.1:p.Asp502His
NM_001127698.1:c.1561G>C	NP_001121170.1:p.Asp521His
NM_001127699.1:c.1561G>C	NP_001121171.1:p.Asp521His
NM_006846.3:c.1561G>C , LRG_110t1:c.1561G>C	NP_006837.2:p.Asp521His
XM_011537550.1:c.1504G>C	XP_011535852.1:p.Asp502His
XM_011537551.1:c.1477G>C	XP_011535853.1:p.Asp493His
XM_011537551.2:c.1477G>C	XP_011535853.1:p.Asp493His
NM_001127698.2:c.1561G>C	NP_001121170.1:p.Asp521His
NM_001127699.2:c.1561G>C	NP_001121171.1:p.Asp521His
NM_006846.4:c.1561G>C MANE Select	NP_006837.2:p.Asp521His